SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2514000287 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2514000372 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514000375 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514001984 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514002045 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514002081 ERCC2 Health Risk Likely pathogenic —
RS2514002471 ERCC2 Health Risk Likely pathogenic —
RS2514002847 ERCC2 Health Risk Pathogenic —
RS2514003116 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514003614 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514004859 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514006097 ERCC2 Health Risk Pathogenic —
RS2514006203 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514006401 ERCC2 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Inborn genetic diseases
RS2514006425 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514006464 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514012560 ERCC2 Health Risk Pathogenic —
RS2514012590 ERCC2 Health Risk Pathogenic —
RS2514012636 ERCC2 Health Risk Pathogenic —
RS2514012697 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514012707 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514012713 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514013177 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514013864 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514014150 ERCC2 Health Risk Pathogenic —
RS2514015864 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514016082 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2514017119 RYR1 Health Risk Pathogenic —
RS2514019854 SDHAF1 Health Risk Likely pathogenic Mitochondrial complex 2 deficiency, nuclear type 2
RS2514021598 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514022206 ATP1A3 Health Risk Pathogenic —
RS2514023173 ERCC2 Health Risk Pathogenic —
RS2514023304 ERCC2 Health Risk Pathogenic —
RS2514023319 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514023544 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2514023621 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2514025233 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2514026839 SYNE4 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2514027187 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514028081 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2514028225 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514028320 ERCC2 Health Risk Pathogenic —
RS2514028404 ERCC2 Health Risk Pathogenic —
RS2514028487 ERCC2 Health Risk Pathogenic —
RS2514028585 ERCC2 Health Risk Pathogenic —
RS2514029012 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514029053 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514029566 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514029570 ERCC2 Health Risk Pathogenic —
RS2514029982 ERCC2 Health Risk Pathogenic —
RS2514030085 ERCC2 Health Risk Pathogenic/Likely pathogenic Trichothiodystrophy 1, photosensitive
RS2514030262 ERCC2 Health Risk Pathogenic —
RS2514030892 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514030959 ERCC2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2514031946 ERCC2 Health Risk Pathogenic —
RS2514032024 SYNE4 Health Risk Likely pathogenic —
RS2514032270 ATP1A3 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS2514032458 ATP1A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99
RS2514032524 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Neurodevelopmental delay
RS2514032567 ATP1A3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2514032584 SYNE4 Health Risk Likely pathogenic —
RS2514033812 ERCC2 Health Risk Likely pathogenic —
RS2514033848 ERCC2 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514033921 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS2514033986 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514034313 ERCC2 Health Risk Pathogenic —
RS2514034822 ERCC2 Health Risk Pathogenic —
RS2514035206 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514037668 SYNE4 Health Risk Pathogenic —
RS2514037904 SYNE4 Health Risk Pathogenic —
RS2514038071 SYNE4 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 76
RS2514039278 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514039500 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514039620 SYNE4 Health Risk Pathogenic —
RS2514040069 SYNE4 Health Risk Pathogenic —
RS2514040072 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514041357 SYNE4 Health Risk Pathogenic —
RS2514041516 SYNE4 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 76
RS2514041659 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514041920 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2514043086 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514043578 ERCC2 Health Risk Likely pathogenic —
RS2514043674 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514044862 ERCC2 Health Risk Pathogenic —
RS2514045021 ERCC2 Health Risk Likely pathogenic —
RS2514045040 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 2
RS2514045500 ERCC2 Health Risk Pathogenic —
RS2514045659 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514046757 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514046994 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2514047010 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS2514047021 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2514048150 ERCC2 Health Risk Likely pathogenic —
RS2514048182 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2514048317 ERCC2 Health Risk Likely pathogenic —
RS2514048469 RYR1 Health Risk Likely pathogenic —
RS2514048526 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514048536 ERCC2 Health Risk Pathogenic —
RS2514048836 SYNE4 Health Risk Pathogenic —
RS2514048994 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
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