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
RS397515284 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515285 TSC2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Tuberous sclerosis 2
RS397515287 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS397515288 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515291 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, beta Thalassemia
RS397515293 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397515294 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397515296 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS397515297 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515301 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515302 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515303 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515305 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS397515306 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS397515309 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515310 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS397515315 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515316 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS397515318 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS397515319 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397515320 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS397515321 DPAGT1 Health Risk Pathogenic Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS397515322 DPAGT1 Health Risk Pathogenic DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation
RS397515323 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS397515324 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS397515325 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS397515326 HNRNPA2B1 Health Risk Pathogenic Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
RS397515327 DPAGT1 Health Risk Pathogenic/Likely pathogenic DPAGT1-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS397515328 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS397515329 DPAGT1 Health Risk Pathogenic DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation
RS397515330 PRKG1 Health Risk Pathogenic Aortic aneurysm, familial thoracic 8
RS397515332 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS397515333 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS397515334 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS397515335 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome
RS397515336 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Senior-Loken syndrome 7
RS397515337 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS397515338 HPSE2 Health Risk Pathogenic/Likely pathogenic Urofacial syndrome type 1, Urofacial syndrome type 1
RS397515339 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia 13, Kartagener syndrome
RS397515340 RSPH9 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 12, Primary ciliary dyskinesia
RS397515341 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia 10, Kartagener syndrome
RS397515342 GBE1 Health Risk Likely pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
RS397515343 GBE1 Health Risk Pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
RS397515344 GBE1 Health Risk Likely pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
RS397515345 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1
RS397515346 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS397515347 HGD Health Risk Pathogenic Alkaptonuria, HGD-related disorder
RS397515349 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS397515350 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS397515351 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS397515352 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS397515353 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS397515354 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS397515355 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS397515356 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS397515357 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Combined immunodeficiency due to STIM1 deficiency
RS397515358 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS397515359 USH1C Health Risk Pathogenic Usher syndrome type 1C, Usher syndrome type 1
RS397515360 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Retinal dystrophy
RS397515361 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS397515362 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS397515363 DNAI1 Health Risk Pathogenic Kartagener syndrome, Primary ciliary dyskinesia
RS397515364 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515365 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515366 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS397515367 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS397515368 SOX10 Health Risk Likely pathogenic PCWH syndrome, PCWH syndrome
RS397515369 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, without neurologic involvement
RS397515370 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, with neurologic involvement
RS397515371 SOX10 Health Risk Conflicting classifications of pathogenicity PCWH syndrome, Charcot-Marie-Tooth disease
RS397515372 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS397515373 MSTN Health Risk Pathogenic Myostatin-related muscle hypertrophy, Myostatin-related muscle hypertrophy
RS397515374 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS397515375 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS397515376 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS397515377 TTPA Health Risk Pathogenic ATAXIA, FRIEDREICH-LIKE
RS397515378 TTPA Health Risk Pathogenic ATAXIA, FRIEDREICH-LIKE
RS397515379 TTPA Health Risk Pathogenic ATAXIA, FRIEDREICH-LIKE
RS397515381 SMS Health Risk Pathogenic Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS397515382 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS397515383 NDUFS1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS397515384 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS397515385 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS397515386 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, without neurologic involvement
RS397515387 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, without neurologic involvement
RS397515388 RBM8A Health Risk Pathogenic Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
RS397515389 RBM8A Health Risk Pathogenic Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
RS397515390 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Combined immunodeficiency due to STIM1 deficiency
RS397515391 SLC46A1 Health Risk Pathogenic Congenital defect of folate absorption, Congenital defect of folate absorption
RS397515392 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS397515393 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS397515395 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2
RS397515396 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS397515397 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS397515398 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS397515399 NKX2-5 Health Risk Conflicting classifications of pathogenicity Familial isolated congenital asplenia, Cardiovascular phenotype
RS397515401 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS397515402 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS397515403 KCNT1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 14
RS397515404 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
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