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
RS2545153722 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545153764 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545153892 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545154009 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545154252 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545155962 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545156145 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545156541 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545162609 OBSCN Health Risk Pathogenic —
RS2545172564 MYO15A Health Risk Pathogenic —
RS2545172930 MYO15A Health Risk Pathogenic —
RS2545173109 MYO15A Health Risk Pathogenic —
RS2545173222 MYO15A Health Risk Pathogenic —
RS2545173475 MYO15A Health Risk Pathogenic —
RS2545173577 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545173774 MYO15A Health Risk Pathogenic —
RS2545174190 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Inborn genetic diseases
RS2545174628 MYO15A Health Risk Likely pathogenic MYO15A-related disorder, MYO15A-related disorder
RS2545176178 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2545176206 MYO15A Health Risk Pathogenic —
RS2545176258 MYO15A Health Risk Pathogenic —
RS2545176812 MYO15A Health Risk Pathogenic —
RS2545177036 MYO15A Health Risk Pathogenic —
RS2545177176 MYO15A Health Risk Pathogenic —
RS2545178918 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545180675 MYO15A Health Risk Pathogenic —
RS2545180879 MYO15A Health Risk Pathogenic —
RS2545181239 MYO15A Health Risk Pathogenic —
RS2545182699 SLC25A12 Health Risk Pathogenic Developmental and epileptic encephalopathy, 39
RS2545184821 MYO15A Health Risk Pathogenic —
RS2545184852 MYO15A Health Risk Pathogenic —
RS2545185062 MYO15A Health Risk Pathogenic —
RS2545185748 MYO15A Health Risk Pathogenic —
RS2545186890 MYO15A Health Risk Pathogenic —
RS2545187690 MYO15A Health Risk Pathogenic —
RS2545187754 MYO15A Health Risk Pathogenic —
RS2545187885 MYO15A Health Risk Pathogenic —
RS2545188611 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2545188753 MYO15A Health Risk Pathogenic —
RS2545188998 SLC25A12 Health Risk Pathogenic —
RS2545189511 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2545189905 MYO15A Health Risk Pathogenic —
RS2545192559 MYO15A Health Risk Pathogenic —
RS2545192609 MYO15A Health Risk Pathogenic —
RS2545193305 MYO15A Health Risk Pathogenic —
RS2545193475 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545193797 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545194135 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545194243 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545194914 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545195273 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545195353 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545195502 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545196150 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545196328 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545196394 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545196585 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545197435 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545197666 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545198049 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545199010 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545199408 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545199633 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2545199655 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2545199810 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545200773 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545200888 TRIM37 Health Risk Pathogenic —
RS2545200948 BRIP1 Health Risk Pathogenic/Likely pathogenic Breast and/or ovarian cancer, Fanconi anemia complementation group J
RS2545201248 NBEAL2 Health Risk Pathogenic —
RS2545201350 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545202147 MYO15A Health Risk Pathogenic —
RS2545205316 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545205800 MYO15A Health Risk Pathogenic —
RS2545206298 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545206952 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545208061 SLC25A12 Health Risk Pathogenic —
RS2545219953 MYO15A Health Risk Pathogenic —
RS2545220401 MYO15A Health Risk Likely pathogenic —
RS2545221033 MYO15A Health Risk Pathogenic —
RS2545223678 ABCB11 Health Risk Pathogenic —
RS2545223749 ABCB11 Health Risk Pathogenic —
RS2545224454 MYO15A Health Risk Pathogenic —
RS2545224702 ABCB11 Health Risk Pathogenic —
RS2545227315 MYO15A Health Risk Pathogenic —
RS2545228642 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545228941 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545230881 ADGRG1 Health Risk Pathogenic —
RS2545232453 ADGRG1 Health Risk Pathogenic —
RS2545236621 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545237313 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545242295 MYO15A Health Risk Pathogenic —
RS2545244528 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545245493 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS2545246000 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545246557 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS2545247153 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545247381 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545247575 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545248405 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545249298 ABCB11 Health Risk Pathogenic —
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