SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS878853314 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS878853315 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS878853317 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS878853320 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS878853321 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS878853322 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS878853324 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS878853325 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS878853326 RP1 Health Risk Pathogenic Retinal dystrophy, Inborn genetic diseases
RS878853327 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS878853328 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS878853329 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853331 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853334 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853335 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853337 CDH23 Health Risk Pathogenic Retinal dystrophy, Pituitary adenoma 5
RS878853338 RDH12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS878853339 RDH12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS878853341 RDH12 Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS878853342 GUCY2D Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853343 GUCY2D Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 1
RS878853347 CDHR1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853348 ADGRV1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853349 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS878853350 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS878853351 LRAT Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS878853352 BBS7 Health Risk Pathogenic Retinal dystrophy, Bardet-Biedl syndrome 7
RS878853353 MERTK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS878853354 MERTK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS878853355 MERTK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853357 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS878853358 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS878853359 CNGA3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853360 CEP290 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Nephronophthisis
RS878853361 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853362 CEP290 Health Risk Pathogenic Retinal dystrophy, Nephronophthisis
RS878853363 CEP290 Health Risk Pathogenic Retinal dystrophy, Joubert syndrome
RS878853364 CRB1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS878853366 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853367 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS878853368 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS878853369 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853370 CRB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS878853371 CRB1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS878853372 RPE65 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 20
RS878853373 RPGR Health Risk Likely pathogenic Retinal dystrophy, RPGR-related retinopathy
RS878853374 RPGR Health Risk Pathogenic Retinal dystrophy, RPGR-related retinopathy
RS878853376 MYO7A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS878853378 MYO7A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 1
RS878853379 CLRN1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853381 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853382 LCA5 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS878853383 CRX Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 7
RS878853385 SPATA7 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 3
RS878853387 PRPF8 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853389 RPGRIP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS878853390 RPGRIP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853391 RPGRIP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853392 RPGRIP1 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 6
RS878853394 CNGB1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 45
RS878853396 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS878853397 ABCA4 Health Risk Pathogenic Retinal dystrophy, ABCA4-related retinopathy
RS878853400 PROM1 Health Risk Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 12
RS878853404 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A
RS878853405 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS878853407 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A
RS878853408 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853409 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS878853410 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS878853411 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS878853412 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS878853413 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome
RS878853414 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853419 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853420 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS878853422 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Carcinoma of colon
RS878853425 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS878853426 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853427 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS878853428 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853432 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS878853436 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS878853438 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS878853444 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853449 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853451 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS878853454 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853458 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS878853459 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853464 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS878853465 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS878853471 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS878853475 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS878853476 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS878853486 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853489 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853490 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853491 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878853492 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853493 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
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