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
RS772867912 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, CNGA1-related disorder
RS772868048 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS772868108 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS772869377 PEX6 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder
RS772870804 KMT2D Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Kabuki syndrome 1
RS77287119 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS772871471 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS772871597 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS772872014 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS772873071 AGBL5 Health Risk Pathogenic —
RS772873287 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS772875455 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS772877702 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootorenal syndrome 1
RS772878388 XDH Health Risk Pathogenic Hereditary xanthinuria type 1, Xanthinuria type II
RS772879726 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS772880581 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS772880800 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS772880930 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS772881093 NR2E3 Health Risk Pathogenic/Likely pathogenic Abnormality of the eye, Retinal dystrophy
RS772882862 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS772883080 CNTNAP2 Health Risk Pathogenic Inborn genetic diseases, Cortical dysplasia-focal epilepsy syndrome
RS772883200 CILK1 Health Risk Likely pathogenic Epilepsy, juvenile myoclonic
RS772883420 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS772883781 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772886076 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS772886155 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS772886864 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772887102 RARS2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 6
RS772887242 IHH Health Risk Conflicting classifications of pathogenicity Brachydactyly type A1, Brachydactyly type A1
RS772887330 VWF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772887402 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS772888193 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS772888249 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS772888455 UBA5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
RS772888575 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS772889503 COL2A1 Health Risk Conflicting classifications of pathogenicity 15 conditions, 15 conditions
RS772889673 TTN Health Risk Conflicting classifications of pathogenicity Abnormality of neuronal migration, Dilated cardiomyopathy 1G
RS772889728 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS772889861 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS772889877 CHD2 Health Risk Likely pathogenic CHD2-related disorder, CHD2-related disorder
RS772890884 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS772890888 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS772892382 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772892562 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS772895065 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS772895608 CRB2 Health Risk Pathogenic Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease
RS772896106 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS77289650 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS772896545 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772896860 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS772897825 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS772898321 RAI1 Health Risk Likely pathogenic RAI1-related disorder, RAI1-related disorder
RS772898391 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS772898831 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS772899497 ERCC4 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome, Xeroderma pigmentosum
RS772899702 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS772900011 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS772900092 COL7A1 Health Risk Conflicting classifications of pathogenicity Palmoplantar blistering, Skin fragility with non-scarring blistering
RS772900496 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS772903026 NR2E3 Health Risk Pathogenic —
RS772903405 CYP17A1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder
RS772903899 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell carcinoma
RS772904218 POLR3A Health Risk Likely pathogenic POLR3A-related disorder, POLR3A-related disorder
RS772904754 TRAPPC9 Health Risk Conflicting classifications of pathogenicity —
RS772905355 UGT2B17 Health Risk Conflicting classifications of pathogenicity —
RS772906890 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS772907727 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS772908702 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS772909239 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS772909795 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS772910188 GBE1 Health Risk Pathogenic Glycogen storage disease IV, classic hepatic
RS772910213 SHOX Health Risk Conflicting classifications of pathogenicity SHOX-related disorder, Leri-Weill dyschondrosteosis
RS772911646 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS772911828 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS772911878 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS772912674 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS772912966 PHKG2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type IXc, Glycogen storage disease IXc
RS772913758 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS772913881 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS772913999 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS772914284 ANTXR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772915368 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS772916997 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS772917131 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS772917364 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Retinal dystrophy
RS772918163 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772918388 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS772918817 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772918939 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS772919031 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS772920001 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS772920146 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS772920507 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Pulmonary arterial hypertension
RS772921319 DSP Health Risk Pathogenic DSP-related disorder, DSP-related disorder
RS772921325 PHEX Health Risk Pathogenic —
RS772921412 KCNV2 Health Risk Pathogenic —
RS772922134 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Inborn genetic diseases
RS772925137 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772926890 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS772928933 FBN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital contractural arachnodactyly
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