SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS786204279 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS786204280 BRCA2 Health Risk Pathogenic Breast and/or ovarian cancer, Breast-ovarian cancer
RS786204281 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS786204283 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS786204284 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS786204294 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS786204307 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786204316 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786204319 MSH2 Health Risk Pathogenic —
RS786204321 MSH2 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms
RS786204329 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS786204336 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS786204338 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS786204339 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS786204348 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Left ventricular noncompaction
RS786204352 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS786204362 MYBPC3 Health Risk Likely pathogenic —
RS786204378 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS786204388 PKP2 Health Risk Pathogenic/Likely pathogenic Sudden unexplained death, Arrhythmogenic right ventricular dysplasia 9
RS786204389 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS786204392 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS786204393 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS786204395 PKP2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 1, Arrhythmogenic right ventricular dysplasia 9
RS786204410 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS786204411 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS786204416 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS786204420 CTNS Health Risk Pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS786204421 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS786204422 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS786204424 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS786204426 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS786204427 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS786204428 CLRN1 Health Risk Pathogenic Usher syndrome type 3, Rare genetic deafness
RS786204429 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS786204430 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS786204433 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS786204434 CTNS Health Risk Pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS786204437 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS786204442 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS786204444 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS786204449 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS786204450 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS786204454 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS786204455 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS786204456 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS786204457 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS786204458 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS786204460 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS786204466 CBS Health Risk Pathogenic Classic homocystinuria, Homocystinuria
RS786204467 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS786204471 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS786204473 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS786204474 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS786204476 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS786204477 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Phosphate transport defect
RS786204478 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS78620448 GAL3ST2 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Cervical cancer
RS786204481 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease IIIa
RS786204483 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS786204489 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS786204490 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS786204491 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Inborn genetic diseases
RS786204492 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS786204498 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS786204501 CTNS Health Risk Pathogenic Juvenile nephropathic cystinosis, Nephropathic cystinosis
RS786204502 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS786204503 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS786204504 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS786204506 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS786204507 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS786204512 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS786204514 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS786204515 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS786204517 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS786204523 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS786204524 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS786204530 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS786204532 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS786204533 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS786204536 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS786204537 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS786204540 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS786204541 CTNS Health Risk Pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS786204542 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS786204543 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS786204544 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS786204545 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS786204547 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS786204549 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS786204550 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS786204551 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS786204553 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS786204558 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS786204561 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS786204566 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
RS786204567 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS786204570 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS786204572 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS786204573 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS786204575 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
« Prev 1 ... 3742 3743 3744 3745 3746 3747 3748 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →