Resource
| Id | hg38/scores/ClinVar_20261011 |
|---|---|
| Type | allele_score |
| Version | 0 |
| Summary | Measure used to assess the clinical significance of genetic variants |
| Description |
ClinVar is a publicly available resource that collects and shares information on the relationships between human genetic variants and their associated health conditions. By providing detailed evidence and supporting data, ClinVar enables researchers, healthcare professionals, and the broader medical community to better understand how specific genetic variations impact health. Submissions to ClinVar include data from patient samples, assessments of the clinical significance of variants, and information about the organizations providing the data. All submitted variants are mapped to standardized reference sequences using HGVS nomenclature. ClinVar supports both interactive exploration and integration into clinical and research workflows, ensuring its data is accessible and useful for the advancement of precision medicine. ClinVar actively collaborates with organizations worldwide to address the evolving needs of the genetics and medical communities. Downloaded on: 10/15/26 https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/ Processing details: The original ClinVar VCF was processed using |
| Labels |
|
Scores (27)
| ID | Type | Default annotation | Description | Histogram | Range | Summary |
|---|---|---|---|---|---|---|
| AF_ESP | float |
- |
allele frequencies from GO-ESP
Small values desc: low frequency
Large values desc: high frequency
|
 |
[8e-05, 1] |
|
| AF_EXAC | float |
- |
allele frequencies from ExAC
Small values desc: low frequency
Large values desc: high frequency
|
 |
[0, 1] |
|
| AF_TGP | float |
- |
allele frequencies from TGP
Small values desc: low frequency
Large values desc: high frequency
|
 |
[0, 1] |
|
| ALLELEID | int |
- |
ClinVar Allele ID
|
 |
[1.5e+04, 5.13e+06] |
|
| CLNDN | str |
CLNDN |
ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB
|
 |
not_specified, not_provided, Inborn_genetic_diseases, Hereditary_cancer-predisposing_syndrome, not_specified|not_provided, Cardiovascular_phenotype, not_provided|not_specified, Inborn_genetic_diseases|not_provided, not_provided|Inborn_genetic_diseases, Primary_ciliary_dyskinesia (top 10 of 230956 values) | |
| CLNDNINCL | str |
- |
For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB
|
 |
not_specified, Vancomycin_response, Leber_congenital_amaurosis, Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency, Cystic_fibrosis, not_provided, Citalopram_response|Escitalopram_response|Sertraline_response|Voriconazole_response, Abnormality_of_neuronal_migration, Acyl-CoA_dehydrogenase_9_deficiency, 21-Hydroxylase-Deficient_Congenital_Adrenal_Hyperplasia, Severe_early-childhood-onset_retinal_dystrophy, Vici_syndrome, Hypercholesterolemia|_familial|_1, Opsismodysplasia, Alpha-1-antitrypsin_deficiency, Familial_hypokalemia-hypomagnesemia, Autosomal_recessive_nonsyndromic_hearing_loss_3, Breast-ovarian_cancer|_familial|_susceptibility_to|_1, Reclassified_-_variant_of_unknown_significance, Fabry_disease (top 20 of 642 values) | |
| CLNDISDB | str |
- |
Tag-value pairs of disease database name and identifier submitted for germline classifications, e.g. OMIM:NNNNNN"
|
 |
MedGen:CN169374, MedGen:C3661900, MeSH:D030342|MedGen:C0950123, ., MONDO:MONDO:0015356|MeSH:D009386|MedGen:C0027672|Orphanet:140162, MedGen:CN169374|MedGen:C3661900, MedGen:CN230736, MedGen:C3661900|MedGen:CN169374, MeSH:D030342|MedGen:C0950123|MedGen:C3661900, MedGen:C3661900|MeSH:D030342|MedGen:C0950123, .|MedGen:C3661900, Human_Phenotype_Ontology:HP:0012265|MONDO:MONDO:0016575|MedGen:C0008780|OMIM:PS244400|Orphanet:244, MedGen:C3661900|., MedGen:CN517202, MONDO:MONDO:0800491|MedGen:C0393706|Orphanet:1934, MONDO:MONDO:0019391|MeSH:D005199|MedGen:C0015625|OMIM:PS227650|Orphanet:84, MONDO:MONDO:0011400|MedGen:C1858763|OMIM:604145|Orphanet:154|MONDO:MONDO:0012127|MedGen:C1837342|OMIM:608807|Orphanet:140922, MONDO:MONDO:0009725|MedGen:C1850569|OMIM:256030, Human_Phenotype_Ontology:HP:0001258|Human_Phenotype_Ontology:HP:0007062|Human_Phenotype_Ontology:HP:0007124|Human_Phenotype_Ontology:HP:0007216|MedGen:C0037772, MONDO:MONDO:0019625|MedGen:C4707243|OMIM:PS607086|Orphanet:91387 (top 20 of 198267 values) | |
| CLNDISDBINCL | str |
- |
For included Variant: Tag-value pairs of disease database name and identifier for germline classifications, e.g. OMIM:NNNNNN
|
 |
., MedGen:CN169374, MedGen:CN297638, MONDO:MONDO:0018998|MeSH:D057130|MedGen:C0339527|OMIM:PS204000|Orphanet:65, MONDO:MONDO:0010480|MedGen:C2720289|OMIM:300908|Orphanet:466026, MONDO:MONDO:0009061|MedGen:C0010674|OMIM:219700|Orphanet:586, MedGen:C3661900, MedGen:CN221263|MedGen:CN221264|MedGen:CN221265|MedGen:CN077957, Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:C1837249, MONDO:MONDO:0012624|MedGen:C4747517|OMIM:611126|Orphanet:99901, MedGen:C2936858|OMIM:201910, MONDO:MONDO:0009549|MeSH:D000080362|MedGen:C1855465|OMIM:248200|Orphanet:364055|Orphanet:827, MONDO:MONDO:0009452|MedGen:C1855772|OMIM:242840|Orphanet:1493, .|., .|MedGen:CN221263|MedGen:CN221264|MedGen:CN221265|MedGen:CN077957, MONDO:MONDO:0007750|MedGen:C0745103|OMIM:143890|Orphanet:391665, MONDO:MONDO:0009785|MedGen:C0432219|OMIM:258480|Orphanet:2746, MONDO:MONDO:0013282|MedGen:C0221757|OMIM:613490|Orphanet:60, MONDO:MONDO:0009904|MedGen:C0268450|OMIM:263800|Orphanet:358, MONDO:MONDO:0010860|MedGen:C1838263|OMIM:600316|Orphanet:90636 (top 20 of 580 values) | |
| CLNREVSTAT | str |
- |
ClinVar review status of germline classification for the Variation ID
|
 |
criteria_provided|_single_submitter, criteria_provided|_multiple_submitters|_no_conflicts, criteria_provided|_conflicting_classifications, no_assertion_criteria_provided, reviewed_by_expert_panel, no_classification_provided, no_classification_for_the_single_variant, no_classifications_from_unflagged_records, practice_guideline | |
| CLNSIG | str |
CLNSIG |
Aggregate germline classification for this single variant; multiple values are separated by a vertical bar
|
 |
Uncertain_significance, Likely_benign, Benign, Pathogenic, Conflicting_classifications_of_pathogenicity, Likely_pathogenic, Benign/Likely_benign, Pathogenic/Likely_pathogenic, not_provided, drug_response, other, no_classification_for_the_single_variant, risk_factor, association, Uncertain_significance/Uncertain_risk_allele, no_classifications_from_unflagged_records, Affects, Likely_risk_allele, Pathogenic|_low_penetrance, Pathogenic|other (top 20 of 104 values) | |
| CLNSIGCONF | str |
- |
Conflicting germline classification for this single variant; multiple values are separated by a vertical bar
|
 |
Uncertain_significance_(1)|Likely_benign_(1), Uncertain_significance_(2)|Likely_benign_(1), Uncertain_significance_(1)|Likely_benign_(2), Likely_pathogenic_(1)|Uncertain_significance_(1), Uncertain_significance_(3)|Likely_benign_(1), Uncertain_significance_(1)|Benign_(1), Uncertain_significance_(4)|Likely_benign_(1), Uncertain_significance_(1)|Likely_benign_(3), Uncertain_significance_(2)|Likely_benign_(2), Pathogenic_(1)|Uncertain_significance_(1), Uncertain_significance_(1)|Benign_(1)|Likely_benign_(1), Likely_pathogenic_(1)|Uncertain_significance_(2), Uncertain_significance_(5)|Likely_benign_(1), Uncertain_significance_(2)|Benign_(1), Uncertain_significance_(3)|Likely_benign_(2), Uncertain_significance_(1)|Benign_(1)|Likely_benign_(2), Uncertain_significance_(1)|Likely_benign_(4), Likely_pathogenic_(2)|Uncertain_significance_(1), Uncertain_significance_(2)|Likely_benign_(3), Uncertain_significance_(6)|Likely_benign_(1) (top 20 of 2250 values) | |
| CLNSIGINCL | str |
- |
Germline classification for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:classification; multiple values are separated by a vertical bar
|
 |
1723892:drug_response, 14353:Uncertain_significance, 5345:Benign, 440728:risk_factor, 869112:association, 1184302:Uncertain_significance, 1022:risk_factor, 17709:Benign, 36924:Pathogenic, 29691:risk_factor, 4075782:Pathogenic, 12182:Pathogenic, 13542:risk_factor, 17736:Affects|2573152:Benign|2573153:Benign|2573154:Benign, 633844:drug_response|633885:drug_response|633887:drug_response|633888:drug_response|633904:drug_response|633905:drug_response|633910:drug_response|633913:drug_response|633916:drug_response|633925:drug_response|633927:drug_response|633930:drug_response|633941:drug_response|633952:drug_response|633958:drug_response|633965:drug_response|634060:drug_response|634114:drug_response|634132:drug_response|634136:drug_response|634137:drug_response|634138:drug_response|634205:drug_response|634212:drug_response|634213:drug_response|634232:drug_response|634272:drug_response|634298:drug_response|634355:drug_response|634365:drug_response|634375:drug_response|634413:drug_response|634414:drug_response|634427:drug_response|638789:drug_response, 438264:Pathogenic, 1722723:Likely_pathogenic, 202166:not_provided, 12304:Pathogenic, 14182:Pathogenic (top 20 of 1005 values) | |
| CLNVC | str |
- |
Variant type
|
 |
single_nucleotide_variant, Deletion, Duplication, Microsatellite, Indel, Insertion, Inversion, Variation | |
| CLNVCSO | str |
- |
Sequence Ontology id for variant type
|
 |
SO:0001483, SO:0000159, SO:1000035, SO:0000289, SO:1000032, SO:0000667, SO:1000036, SO:0001059 | |
| CLNVI | str |
- |
the variant's clinical sources reported as tag-value pairs of database and variant identifier
|
 |
OMIM:154270.0001, Genetic_Testing_Registry_(GTR):GTR000619748|Genetic_Testing_Registry_(GTR):GTR000619755|Genetic_Testing_Registry_(GTR):GTR000619758|Genetic_Testing_Registry_(GTR):GTR000619762, Genetic_Testing_Registry_(GTR):GTR000569522|Genetic_Testing_Registry_(GTR):GTR000613418, OMIM:111700.0002, OMIM:131230.0001, OMIM:610665.0001, OMIM:605634.0002, OMIM:152200.0002, Genetic_Testing_Registry_(GTR):GTR000569522|Genetic_Testing_Registry_(GTR):GTR000613302|Genetic_Testing_Registry_(GTR):GTR000613428, OMIM:611409.0013, OMIM:601146.0012, OMIM:611082.0001, OMIM:608515.0002, OMIM:102610.0015, OMIM:605556.0005, OMIM:146929.0001, OMIM:604083.0004, OMIM:601470.0001, OMIM:191328.0003, OMIM:607607.0003 (top 20 of 2884029 values) | |
| GENEINFO | str |
- |
Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)
|
 |
BRCA2:675, TTN:7273|TTN-AS1:100506866, NF1:4763, APC:324, TTN:7273, BRCA1:672, TSC2:7249, ATM:472, POLE:5426, RYR1:6261, DMD:1756, MSH6:2956, NEB:4703, RYR2:6262, FBN1:2200, USH2A:7399, MSH2:4436, DICER1:23405, KMT2D:8085, ADGRV1:84059 (top 20 of 32314 values) | |
| MC | str |
- |
comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence
|
 |
SO:0001583|missense_variant, SO:0001627|intron_variant, SO:0001819|synonymous_variant, SO:0001583|missense_variant|SO:0001619|non-coding_transcript_variant, SO:0001583|missense_variant|SO:0001627|intron_variant, SO:0001589|frameshift_variant, SO:0001619|non-coding_transcript_variant|SO:0001819|synonymous_variant, SO:0001587|nonsense, SO:0001624|3_prime_UTR_variant, SO:0001575|splice_donor_variant, SO:0001627|intron_variant|SO:0001819|synonymous_variant, SO:0001583|missense_variant|SO:0001623|5_prime_UTR_variant, SO:0001574|splice_acceptor_variant, SO:0001583|missense_variant|SO:0001619|non-coding_transcript_variant|SO:0001627|intron_variant, SO:0001583|missense_variant|SO:0001624|3_prime_UTR_variant, SO:0001583|missense_variant|SO:0001619|non-coding_transcript_variant|SO:0001623|5_prime_UTR_variant, SO:0001589|frameshift_variant|SO:0001619|non-coding_transcript_variant, SO:0001623|5_prime_UTR_variant, SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant, SO:0001822|inframe_deletion (top 20 of 696 values) | |
| ONCDN | str |
- |
ClinVar's preferred disease name for the concept specified by disease identifiers in ONCDISDB
|
 |
Neoplasm, Meningioma, Gastrointestinal_stromal_tumor, Acute_myeloid_leukemia, Adenoid_cystic_carcinoma, Neuroendocrine_tumor_of_pancreas, Adrenal_cortex_carcinoma, Pineoblastoma, Colorectal_cancer, Chronic_myeloid_leukemia, Pancreatic_ductal_adenocarcinoma, Glioblastoma_multiforme|_somatic, Neoplasm|Meningioma, Cavernous_sinus_meningioma, Neoplasm|Colorectal_cancer, Squamous_cell_carcinoma_of_the_head_and_neck, Inflammatory_myofibroblastic_tumor_of_the_urinary_bladder, Adenoid_cystic_carcinoma|Neoplasm, Vulvar_adenocarcinoma_of_mammary_gland_type|Neoplasm, Lynch_syndrome, Other | |
| ONCREVSTAT | str |
- |
ClinVar review status of oncogenicity classification for the Variation ID
|
 |
criteria_provided|_single_submitter, no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_multiple_submitters|_no_conflicts, criteria_provided|_conflicting_classifications | |
| ONCDISDB | str |
- |
Tag-value pairs of disease database name and identifier submitted for oncogenicity classifications, e.g. MedGen:NNNNNN
|
 |
Human_Phenotype_Ontology:HP:0002664|Human_Phenotype_Ontology:HP:0003008|Human_Phenotype_Ontology:HP:0006741|MONDO:MONDO:0005070|MeSH:D009369|MedGen:C0027651, Human_Phenotype_Ontology:HP:0002858|Human_Phenotype_Ontology:HP:0006754|MONDO:MONDO:0016642|MedGen:C0025286|Orphanet:2495, Human_Phenotype_Ontology:HP:0100723|MONDO:MONDO:0011719|MeSH:D046152|MedGen:C0238198|OMIM:606764|Orphanet:44890, Human_Phenotype_Ontology:HP:0001914|Human_Phenotype_Ontology:HP:0004808|Human_Phenotype_Ontology:HP:0004843|Human_Phenotype_Ontology:HP:0005516|Human_Phenotype_Ontology:HP:0006724|Human_Phenotype_Ontology:HP:0006728|MONDO:MONDO:0018874|MeSH:D015470|MedGen:C0023467|OMIM:601626|Orphanet:519, MONDO:MONDO:0004971|MeSH:D003528|MedGen:C0010606, MONDO:MONDO:0019954|MedGen:C1337011|Orphanet:97253, Human_Phenotype_Ontology:HP:0002889|Human_Phenotype_Ontology:HP:0006744|Human_Phenotype_Ontology:HP:0006759|MONDO:MONDO:0006639|MeSH:D018268|MedGen:C0206686|Orphanet:1501, Human_Phenotype_Ontology:HP:0030408|Human_Phenotype_Ontology:HP:0040193|MONDO:MONDO:0016722|MedGen:C0205898|Orphanet:251909, MONDO:MONDO:0005575|MedGen:C0346629|OMIM:114500, Human_Phenotype_Ontology:HP:0005506|Human_Phenotype_Ontology:HP:0005544|MONDO:MONDO:0011996|MeSH:D015464|MedGen:C0279543|OMIM:608232|Orphanet:521, MONDO:MONDO:0005184|MedGen:C1335302, MedGen:C4016231, Human_Phenotype_Ontology:HP:0002664|Human_Phenotype_Ontology:HP:0003008|Human_Phenotype_Ontology:HP:0006741|MONDO:MONDO:0005070|MeSH:D009369|MedGen:C0027651|Human_Phenotype_Ontology:HP:0002858|Human_Phenotype_Ontology:HP:0006754|MONDO:MONDO:0016642|MedGen:C0025286|Orphanet:2495, MONDO:MONDO:0002996|MedGen:C1332865, Human_Phenotype_Ontology:HP:0002664|Human_Phenotype_Ontology:HP:0003008|Human_Phenotype_Ontology:HP:0006741|MONDO:MONDO:0005070|MeSH:D009369|MedGen:C0027651|MONDO:MONDO:0005575|MedGen:C0346629|OMIM:114500, Human_Phenotype_Ontology:HP:0020357|MONDO:MONDO:0010150|MeSH:D000077195|MedGen:C1168401|OMIM:275355|Orphanet:67037, ., MONDO:MONDO:0004971|MeSH:D003528|MedGen:C0010606|Human_Phenotype_Ontology:HP:0002664|Human_Phenotype_Ontology:HP:0003008|Human_Phenotype_Ontology:HP:0006741|MONDO:MONDO:0005070|MeSH:D009369|MedGen:C0027651, MedGen:C3839330|Human_Phenotype_Ontology:HP:0002664|Human_Phenotype_Ontology:HP:0003008|Human_Phenotype_Ontology:HP:0006741|MONDO:MONDO:0005070|MeSH:D009369|MedGen:C0027651, MONDO:MONDO:0005835|MedGen:C4552100|Orphanet:144, Other | |
| ONC | str |
- |
Aggregate oncogenicity classification for this single variant; multiple values are separated by a vertical bar
|
 |
Likely_oncogenic, no_classification_for_the_single_variant, Uncertain_significance, Oncogenic, Likely_benign, Benign, Conflicting_classifications_of_oncogenicity | |
| ORIGIN | str |
- |
Allele origin
|
 |
1, 0, 32, 33, 5, 2, 17, 4, 16, 9, 3, 8, 65, 64, 25, 21, 13, 35, 49, 37, Other | |
| RS | str |
- |
Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)
|
No histogram: Histogram is not available for this score. |
NO DOMAIN | |
| SCIDN | str |
- |
ClinVar's preferred disease name for the concept specified by disease identifiers in SCIDISDB
|
 |
Embryonal_rhabdomyosarcoma, Diffuse_midline_glioma|_H3_K27M-mutant, Medulloblastoma_WNT_activated, Primary_central_nervous_system_lymphoma, Diffuse_pediatric-type_high-grade_glioma|_H3-wildtype_and_IDH-wildtype, Diffuse_glioma|_H3_G34_mutant, Neuroblastoma, Familial_cancer_of_breast, Pilocytic_astrocytoma, Medulloblastoma_non-WNT/non-SHH_group_3, Colorectal_cancer, Rhabdomyosarcoma, Germinoma, Medulloblastoma_non-WNT/non-SHH_group_4, Medulloblastoma_SHH_activated, Astrocytoma_IDH-mutant, Chronic_myeloid_leukemia, Medulloblastoma_SHH_activated_and_TP53_wild-type, Acute_myeloid_leukemia, Melanoma (top 20 of 313 values) | |
| SCIDISDB | str |
- |
Tag-value pairs of disease database name and identifier submitted for somatic clinial impact classifications, e.g. MedGen:NNNNNN
|
 |
Human_Phenotype_Ontology:HP:0006743|MONDO:MONDO:0009993|MedGen:C0206656|Orphanet:99757, MONDO:MONDO:0957196|MedGen:C4289688, MONDO:MONDO:0850196|MedGen:C4331965, Human_Phenotype_Ontology:HP:0030069|MONDO:MONDO:0002571|MedGen:C0280803|Orphanet:46135, MONDO:MONDO:0858939|MedGen:C5669918, MONDO:MONDO:0957197|MedGen:CN377580, Human_Phenotype_Ontology:HP:0003006|Human_Phenotype_Ontology:HP:0006738|MONDO:MONDO:0005072|MeSH:D009447|MedGen:C0027819|Orphanet:635, MONDO:MONDO:0016419|MedGen:C0346153|OMIM:114480|Orphanet:227535, Human_Phenotype_Ontology:HP:0033680|MONDO:MONDO:0016691|MedGen:C0334583|Orphanet:251612, MONDO:MONDO:0956966|MedGen:C4330665, MONDO:MONDO:0005575|MedGen:C0346629|OMIM:114500, Human_Phenotype_Ontology:HP:0002859|MONDO:MONDO:0005212|MeSH:D012208|MedGen:C0035412|Orphanet:780, Human_Phenotype_Ontology:HP:0100620|MONDO:MONDO:0002598|MedGen:C0206660, MONDO:MONDO:0956967|MedGen:C4330666, MONDO:MONDO:0850197|MedGen:C4330671, MedGen:C5669733, Human_Phenotype_Ontology:HP:0005506|Human_Phenotype_Ontology:HP:0005544|MONDO:MONDO:0011996|MeSH:D015464|MedGen:C0279543|OMIM:608232|Orphanet:521, MONDO:MONDO:0956965|MedGen:CN377554, Human_Phenotype_Ontology:HP:0001914|Human_Phenotype_Ontology:HP:0004808|Human_Phenotype_Ontology:HP:0004843|Human_Phenotype_Ontology:HP:0005516|Human_Phenotype_Ontology:HP:0006724|Human_Phenotype_Ontology:HP:0006728|MONDO:MONDO:0018874|MeSH:D015470|MedGen:C0023467|OMIM:601626|Orphanet:519, Human_Phenotype_Ontology:HP:0002861|Human_Phenotype_Ontology:HP:0002887|Human_Phenotype_Ontology:HP:0006777|Human_Phenotype_Ontology:HP:0007474|MONDO:MONDO:0005105|MeSH:D008545|MedGen:C0025202 (top 20 of 312 values) | |
| SCI | str |
- |
Aggregate somatic clinical impact for this single variant; multiple values are separated by a vertical bar
|
 |
Tier_I_-_Strong, no_classification_for_the_single_variant, Tier_II_-_Potential, Tier_III_-_Unknown, Tier_IV_-_Benign/Likely_benign | |
| SCIREVSTAT | str |
- |
ClinVar review status of somatic clinical impact for the Variation ID
|
 |
criteria_provided|_single_submitter, no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_multiple_submitters |
n counts alleles; sd is the population standard deviation.
Alleles
| Chromosome | Alleles | substitution % | insertion % | deletion % | complex % | other % |
|---|---|---|---|---|---|---|
| all chromosomes | 4594763 | 92.84% | 2.17% | 4.46% | 0.49% | 0.04% |
| chr1 | 414874 | 93.90% | 1.76% | 3.89% | 0.40% | 0.05% |
| chr2 | 401293 | 91.88% | 2.47% | 5.08% | 0.53% | 0.04% |
| chr3 | 251455 | 93.37% | 2.00% | 4.13% | 0.46% | 0.04% |
| chr4 | 163638 | 93.71% | 1.88% | 3.98% | 0.41% | 0.03% |
| chr5 | 222382 | 92.30% | 2.43% | 4.63% | 0.60% | 0.04% |
| chr6 | 206652 | 92.71% | 2.16% | 4.61% | 0.48% | 0.04% |
| chr6_GL000251v2_alt | 1 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr7 | 223271 | 93.27% | 2.04% | 4.17% | 0.48% | 0.04% |
| chr8 | 155590 | 93.09% | 1.98% | 4.46% | 0.43% | 0.05% |
| chr8_KI270821v1_alt | 1 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr9 | 203288 | 93.12% | 2.26% | 4.09% | 0.48% | 0.04% |
| chr10 | 171779 | 92.95% | 2.28% | 4.26% | 0.46% | 0.05% |
| chr11 | 267878 | 92.79% | 2.14% | 4.50% | 0.53% | 0.04% |
| chr12 | 211635 | 93.34% | 1.96% | 4.23% | 0.43% | 0.04% |
| chr13 | 90267 | 88.32% | 3.41% | 7.42% | 0.78% | 0.07% |
| chr14 | 145498 | 93.67% | 1.92% | 3.98% | 0.40% | 0.03% |
| chr15 | 159373 | 92.56% | 2.26% | 4.65% | 0.47% | 0.05% |
| chr16 | 237273 | 92.75% | 2.18% | 4.50% | 0.55% | 0.03% |
| chr17 | 277204 | 90.81% | 2.72% | 5.75% | 0.66% | 0.06% |
| chr17_KI270909v1_alt | 11 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr18 | 76648 | 93.23% | 2.22% | 4.12% | 0.39% | 0.04% |
| chr19 | 261627 | 94.68% | 1.68% | 3.18% | 0.42% | 0.04% |
| chr19_KI270938v1_alt | 16 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr20 | 99410 | 94.51% | 1.70% | 3.39% | 0.37% | 0.04% |
| chr21 | 51690 | 92.76% | 2.36% | 4.36% | 0.46% | 0.05% |
| chr22 | 99461 | 92.93% | 2.07% | 4.44% | 0.50% | 0.06% |
| chr22_KI270879v1_alt | 20 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chrM | 3135 | 96.14% | 1.47% | 2.11% | 0.26% | 0.03% |
| chrUn_GL000218v1 | 1 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chrX | 198694 | 91.41% | 2.60% | 5.45% | 0.46% | 0.07% |
| chrY | 698 | 95.70% | 1.58% | 2.58% | 0.00% | 0.14% |
Substitution matrix
| ref → alt | A | C | G | T |
|---|---|---|---|---|
| A | 0 0.00% | 144596 3.39% | 458976 10.76% | 127495 2.99% |
| C | 258917 6.07% | 0 0.00% | 266357 6.24% | 882814 20.70% |
| G | 880473 20.64% | 264598 6.20% | 0 0.00% | 258189 6.05% |
| T | 125335 2.94% | 454269 10.65% | 143597 3.37% | 0 0.00% |
ts/tv
1.68
2,676,532 transitions
/ 1,589,084 transversions
Indel lengths
| alleles | min | max | mean | median | |
|---|---|---|---|---|---|
| insertions | 99687 | 1 | 9970 | 13.64 | 1 |
| deletions | 205091 | 1 | 9982 | 36.46 | 2 |
×
×
Complex alleles
Files
| Filename | Size | md5 |
|---|---|---|
| clinvar_20261011.vcf.gz | 191.15 MB | 0f3a1a5e84252386033d5fcab1bf1f6a |
| clinvar_20261011_chr.header.vcf.gz | 1.3 KB | 227bb0f3b4fb6c684c34cc17447e1652 |
| clinvar_20261011_chr.vcf.gz | 191.58 MB | efbf67ab6fb53157234949825b7b46d1 |
| clinvar_20261011_chr.vcf.gz.tbi | 597.94 KB | ac7296b511ef7f5f54fa99338e21622f |
| customplot1.py | 8.09 KB | 1482621843828d22ef8255a334a50e0f |
| dataprep.sh | 2.55 KB | 5b97f9295e4744d420a7ad7cdc515091 |
| genomic_resource.yaml | 10.26 KB | acce1f933448ce62ea4e823d53b80adf |
| hg38.chromAlias.txt | 26.65 KB | 889533482362d1c7d2976e12d8367737 |
| statistics/ |