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
RS1320711528 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1320712673 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1320716582 PEX19 Health Risk Likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS1320718774 TSHR Health Risk Pathogenic/Likely pathogenic Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor
RS1320752132 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1320758709 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1320775536 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS1320808027 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1320839573 ALPL Health Risk Pathogenic Hypophosphatasia, Adult hypophosphatasia
RS1320846022 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS1320848788 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1320849993 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Ovarian serous cystadenocarcinoma
RS1320867301 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1320873902 WFS1 Health Risk Pathogenic —
RS1320890633 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1320893771 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1320897198 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1320902245 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1320932332 CLCN7 Health Risk Likely pathogenic —
RS1321015847 CSTA Health Risk Likely pathogenic —
RS1321074352 HNF1B Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS1321085895 CREBBP Health Risk Conflicting classifications of pathogenicity Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1321112383 PISD Health Risk Pathogenic —
RS1321115911 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1321119554 COL2A1 Health Risk Pathogenic —
RS1321121530 MSH3 Health Risk Pathogenic —
RS1321159751 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1321160729 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1321193444 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1321213780 PDZD7 Health Risk Pathogenic —
RS1321215329 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1321222066 CDC45 Health Risk Likely pathogenic —
RS1321245057 GNPTG Health Risk Pathogenic —
RS1321267678 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1321268291 HYAL2 Health Risk Likely pathogenic HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
RS1321275331 APC Health Risk Conflicting classifications of pathogenicity APC-related disorder, Classic or attenuated familial adenomatous polyposis
RS1321283106 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1321302086 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1321311878 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1321312835 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1321345597 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS1321353475 AP4M1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 50
RS1321365869 PLCZ1 Health Risk Pathogenic —
RS1321378060 NOP10 Health Risk Pathogenic Cataracts, hearing impairment
RS1321391137 CUL7 Health Risk Pathogenic —
RS1321395083 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1321423759 CPLANE1 Health Risk Likely pathogenic —
RS1321427758 PNPT1 Health Risk Likely pathogenic —
RS1321452733 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS1321457390 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1321466782 DPYS Health Risk Pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS1321469218 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1321473082 OBSL1 Health Risk Pathogenic —
RS1321522421 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1321542648 MCEE Health Risk Likely pathogenic Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia
RS1321544261 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1321552081 NUP85 Health Risk Likely pathogenic Nephrotic syndrome, type 17
RS1321566264 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1321582299 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1321583762 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1321621475 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS1321633640 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1321639616 ABCA4 Health Risk Pathogenic —
RS1321646396 TRAF3IP1 Health Risk Likely pathogenic —
RS1321659356 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1321666742 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1321670820 SPTA1 Health Risk Likely pathogenic —
RS1321687875 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS1321690789 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1321705165 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1321711553 TTN Health Risk Likely pathogenic TTN-related disorder, Dilated cardiomyopathy 1G
RS1321748065 PKD1 Health Risk Pathogenic —
RS1321766637 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1321772595 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS1321788006 ADGRV1 Health Risk Pathogenic —
RS1321794341 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1321809020 RERE Health Risk Pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1321818658 FNIP1 Health Risk Pathogenic —
RS1321848637 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1321880935 TAP2 Health Risk Likely pathogenic MHC class I deficiency, MHC class I deficiency
RS1321888585 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS1321892195 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1321892596 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS1321899075 TRAF3IP2 Health Risk Likely pathogenic Candidiasis, familial
RS1321926273 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS1321932022 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1321935316 LTBP4 Health Risk Pathogenic —
RS1321939270 NPHS1 Health Risk Pathogenic —
RS1321940936 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1321951994 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS1321954955 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1321955401 SCN3A Health Risk Likely pathogenic —
RS1321965694 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1321967748 MTFMT Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15
RS1321980462 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1321989289 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1322001449 WDFY3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Microcephaly 18
RS1322038132 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, NPHP3-related Meckel-like syndrome
RS1322064785 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS1322090067 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
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