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
RS968817513 MTOR Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS968817879 WNT10A Health Risk Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS9688653 TULP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TULP1-related disorder
RS968884551 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS968898541 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS968905231 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS968906940 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS968918465 USH1C Health Risk Likely pathogenic —
RS968941427 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS968957955 NBAS Health Risk Likely pathogenic —
RS968974699 SPOP Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
RS968981994 TNXB Health Risk Pathogenic TNXB-related hypermobile Ehlers-Danlos syndrome, TNXB-related hypermobile Ehlers-Danlos syndrome
RS968995369 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS969013352 AIP Health Risk Pathogenic —
RS969015057 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS969042234 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS969072131 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS969095 - Health Risk risk factor Colorectal cancer, Colorectal cancer
RS969139366 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS969160309 GMPPB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS969193071 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS969207580 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS969231209 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS969304991 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS969327635 AFG3L2 Health Risk Conflicting classifications of pathogenicity Optic atrophy 12, Spinocerebellar ataxia type 28
RS969384437 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS969397788 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS969399514 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS969421193 SKIC2 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS969435078 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS969452649 NEK1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, susceptibility to
RS969481454 LAMB2 Health Risk Pathogenic LAMB2-related disorder, Pierson syndrome
RS969485098 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS969498121 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS969515416 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS969517784 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS969552874 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2
RS969563231 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C
RS969576919 NPR2 Health Risk Pathogenic/Likely pathogenic NPR2-related disorder, Tall stature-scoliosis-macrodactyly of the great toes syndrome
RS969592225 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS969611536 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS969617857 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS969633376 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS969701761 B3GALT6 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, spondylodysplastic type
RS969716149 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS969720045 PPP2R1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS969737676 USH2A Health Risk Pathogenic —
RS969786171 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS9697983 GLUD2 Health Risk Conflicting classifications of pathogenicity Parkinson disease, late-onset
RS969810391 LHX3 Health Risk Likely pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies
RS969812647 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Intrauterine growth retardation
RS969835605 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS969899022 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS969925680 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS969930693 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS969941249 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS969947703 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS969950434 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS969993818 KCNC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS970001175 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS970020036 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS970027059 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, Hereditary cancer-predisposing syndrome
RS970037429 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS970061739 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS970090954 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS970111842 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Inborn genetic diseases
RS970144947 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS970151715 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS970163893 SPG21 Health Risk Pathogenic Mast syndrome, Mast syndrome
RS970173552 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS970183279 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS970212462 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS970229634 PHYH Health Risk Likely pathogenic PHYH-related disorder, PHYH-related disorder
RS970237364 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS970248353 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS970276749 OCA2 Health Risk Likely pathogenic —
RS970310064 PLN Health Risk Conflicting classifications of pathogenicity —
RS970338234 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS970352258 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS970365005 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS970431525 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS970449071 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS970494454 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS970505762 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS970525996 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS970527998 CFAP410 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS970533552 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS970541687 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS970547270 TIMMDC1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 31
RS970559788 TAT Health Risk Conflicting classifications of pathogenicity Tyrosinemia type II, Tyrosinemia type II
RS970575319 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS970617965 ENPP1 Health Risk Pathogenic —
RS970623100 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS970636133 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS970651209 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS970655990 DZIP1L Health Risk Likely pathogenic Polycystic kidney disease 5, Polycystic kidney disease 5
RS970663890 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS970679518 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS970681023 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS970695621 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
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