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
RS2136413727 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136413792 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136413869 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136413887 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136413939 VWF Health Risk Likely pathogenic —
RS2136414843 ATM Health Risk Pathogenic —
RS2136415648 GRIN2B Health Risk Pathogenic Developmental and epileptic encephalopathy, 27
RS2136415741 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2136415828 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2136415913 GRIN2B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2136416046 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS2136416346 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136416601 TBX5 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2136416963 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2136417490 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136417619 VWF Health Risk Pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS2136417904 TRPV4 Health Risk Likely pathogenic Metatropic dysplasia, Metatropic dysplasia
RS2136418056 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2136418232 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2136418265 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2136418310 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2136418333 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136418339 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136418437 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136420496 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 3
RS2136420816 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136421421 TBX5 Health Risk Pathogenic/Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2136421561 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2136421981 ATM Health Risk Conflicting classifications of pathogenicity ATM-related cancer predisposition, ATM-related cancer predisposition
RS2136422828 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136422907 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136423257 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136423623 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136423678 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136423753 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136424529 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136426808 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136428332 PUS1 Health Risk Pathogenic —
RS2136428856 PUS1 Health Risk Likely pathogenic —
RS2136430552 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136430770 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136430908 TRPV4 Health Risk Likely pathogenic Metatropic dysplasia, Metatropic dysplasia
RS2136431608 AICDA Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS2136432221 PUS1 Health Risk Likely pathogenic —
RS2136432373 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2136433359 AICDA Health Risk Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS2136434803 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS2136440246 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136440279 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136440291 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136440316 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 1
RS2136440319 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136444136 PUS1 Health Risk Pathogenic —
RS2136449605 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136450266 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136450623 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2136451316 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136452719 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136453754 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136454053 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136454246 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136454370 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136455744 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS2136455808 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136455960 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136456013 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136456030 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136456432 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136459200 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136460393 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136462110 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136463344 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136465036 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136466034 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2136466291 TRPV4 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS2136468103 TRPV4 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS2136470202 GRIN2B Health Risk Pathogenic —
RS2136470299 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS2136470302 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2136470472 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2136470486 VWF Health Risk Pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS2136470509 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2136470584 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136472072 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136474280 VWF Health Risk Conflicting classifications of pathogenicity —
RS2136474390 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136475122 TRPV4 Health Risk Likely pathogenic Metatropic dysplasia, Metatropic dysplasia
RS2136479365 GRIN2B Health Risk Pathogenic Developmental and epileptic encephalopathy, 27
RS2136479389 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2136479850 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2136479935 GRIN2B Health Risk Likely pathogenic —
RS2136485750 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2136488957 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2136490630 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136490774 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136492942 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136493530 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136497216 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136497534 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136497891 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
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