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
RS2136213505 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136213668 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136213885 CHD4 Health Risk Likely pathogenic —
RS2136215102 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2136216750 MVK Health Risk Likely pathogenic Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever
RS2136218596 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2136218711 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2136219026 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136219240 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136219729 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136220112 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136220181 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136220894 CHD4 Health Risk Likely pathogenic —
RS2136220927 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136221257 CHD4 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS2136221943 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136222670 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136222746 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136226194 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger)
RS2136231809 RXYLT1 Health Risk Pathogenic —
RS2136236619 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136236649 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136236945 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Porokeratosis 3
RS2136237257 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136237909 GNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136238332 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial colorectal cancer type X
RS2136238537 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136238826 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136239127 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136240508 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136240561 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2136240892 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136241341 ATM Health Risk Pathogenic Breast carcinoma, Breast carcinoma
RS2136243209 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2136243287 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136243664 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136245530 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136246147 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136247574 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136247644 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136247658 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136247666 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136248422 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136248430 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136248791 VCL Health Risk Pathogenic —
RS2136248862 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136249835 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136249878 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136253236 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136254229 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2136254746 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2136256358 HPS1 Health Risk Pathogenic —
RS2136259310 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136259376 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136259586 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136259630 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2136273769 EHMT1 Health Risk Pathogenic —
RS2136274853 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2136280484 SLC11A2 Health Risk Pathogenic Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS2136287756 PHF21A Health Risk Conflicting classifications of pathogenicity —
RS2136295939 OAS1 Health Risk Pathogenic Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS2136306738 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136307553 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136308396 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136308670 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2136309423 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2136311638 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2136312473 LEMD3 Health Risk Pathogenic —
RS2136312865 LEMD3 Health Risk Pathogenic —
RS2136313078 LEMD3 Health Risk Pathogenic —
RS2136313188 LEMD3 Health Risk Pathogenic Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS2136313227 LEMD3 Health Risk Pathogenic —
RS2136313349 LEMD3 Health Risk Pathogenic Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS2136313585 LEMD3 Health Risk Pathogenic LEMD3-related disorder, LEMD3-related disorder
RS2136313589 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136313631 LEMD3 Health Risk Pathogenic —
RS2136314501 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136314573 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136314701 ATM Health Risk Pathogenic —
RS2136315218 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136317336 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136318333 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2136318895 ATM Health Risk Likely pathogenic ATM-related disorder, ATM-related disorder
RS2136319435 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2136319469 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136320656 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2136321241 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS2136327710 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2136330823 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136332132 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136332542 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136332584 ATM Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2136333690 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2136333791 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2136333814 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2136334244 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2136334341 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2136334561 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136334661 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2136335869 LEMD3 Health Risk Pathogenic —
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