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
RS151340626 CLCN5 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, X-linked recessive
RS151340627 CLCN5 Health Risk Pathogenic Proteinuria, low molecular weight
RS151340628 CLCN5 Health Risk Pathogenic Proteinuria, low molecular weight
RS151340629 CLCN5 Health Risk Pathogenic X-linked recessive nephrolithiasis with renal failure, X-linked recessive nephrolithiasis with renal failure
RS151340630 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS151340631 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS151340632 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS151340633 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS151341424 STRA6 Health Risk Pathogenic Microphthalmia, isolated
RS151344454 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344455 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344462 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344466 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344467 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344470 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344473 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344474 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS151344481 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344482 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS151344484 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344487 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344491 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS151344492 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS151344496 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS151344497 CYBB Health Risk Pathogenic X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, Chronic granulomatous disease
RS151344498 CYBB Health Risk Pathogenic X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, Chronic granulomatous disease
RS151344503 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS151344504 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS151344505 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS151344506 CYP21A2 Health Risk Pathogenic Hyperandrogenism, nonclassic type
RS151344512 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, AFG3L2-related disorder
RS151344513 AFG3L2 Health Risk Likely pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344514 AFG3L2 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28, Optic atrophy 12
RS151344515 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344517 AFG3L2 Health Risk Likely pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344518 AFG3L2 Health Risk Likely pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344519 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344520 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344521 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344522 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344523 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS151344525 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Inborn genetic diseases
RS151344526 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS151344527 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS151344528 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Inborn genetic diseases
RS151344530 TFAP2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Branchiooculofacial syndrome
RS151344531 TFAP2A Health Risk Pathogenic/Likely pathogenic Branchiooculofacial syndrome, Inborn genetic diseases
RS151344623 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS151344624 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS151344629 NLRP3 Health Risk Pathogenic Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness
RS151344630 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS151344631 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Congenital long QT syndrome
RS1532268 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1537044 NECTIN4 Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia-syndactyly syndrome 1, NECTIN4-related disorder
RS154774633 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS154774634 CLN6 Health Risk Pathogenic/Likely pathogenic Ceroid lipofuscinosis, neuronal
RS154774635 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS154774636 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS154774639 CLN6 Health Risk Pathogenic/Likely pathogenic Ceroid lipofuscinosis, neuronal
RS154774640 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS1551570 PPAN Health Risk association Cataplexy and narcolepsy, Cataplexy and narcolepsy
RS1553120047 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1553120055 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1553120110 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1553120202 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1553120678 SELENON Health Risk Pathogenic —
RS1553120691 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1553121072 DHDDS Health Risk Pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS1553121073 DHDDS Health Risk Pathogenic/Likely pathogenic Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59
RS1553121290 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1553121545 DHDDS Health Risk Pathogenic Congenital disorder of glycosylation, type Ibb
RS1553121678 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7
RS1553121684 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1553121689 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7
RS1553121795 RPL11 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1553121852 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 7
RS1553121887 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553121909 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1553122256 YARS1 Health Risk Pathogenic Neurologic, endocrine
RS1553122784 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553122785 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS1553122794 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553122801 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553122804 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553122883 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553122918 PARK7 Health Risk Pathogenic Amyotrophic lateral sclerosis-parkinsonism-dementia complex, Amyotrophic lateral sclerosis-parkinsonism-dementia complex
RS1553122926 DHDDS Health Risk Pathogenic Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59
RS1553122929 PARK7 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS1553122949 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553122996 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553123017 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553123034 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553123054 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553123071 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553123105 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553123252 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553123263 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553123702 YARS1 Health Risk Pathogenic Neurologic, endocrine
RS1553123857 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553123858 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
« Prev 1 ... 754 755 756 757 758 759 760 ... 4509 Next »

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

Get Started Free →