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
RS796053460 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Ovarian cancer
RS796053461 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053462 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053464 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS796053466 TSC1 Health Risk Pathogenic —
RS796053470 TSC1 Health Risk Pathogenic —
RS796053471 TSC1 Health Risk Pathogenic —
RS796053473 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053474 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS796053475 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053476 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053479 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053480 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS796053482 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053483 TSC2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Tuberous sclerosis 2
RS796053484 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS796053485 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS796053486 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053487 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS796053488 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053491 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053492 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS796053493 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053495 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053496 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS796053498 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053499 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053503 TSC2 Health Risk Pathogenic —
RS796053504 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053505 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053506 TSC2 Health Risk Pathogenic —
RS796053507 TSC2 Health Risk Pathogenic —
RS796053509 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS796053511 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053512 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053513 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796053514 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, TSC2-related disorder
RS796053515 TSC2 Health Risk Pathogenic —
RS796053516 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS796053517 TSC2 Health Risk Pathogenic —
RS796053518 TSC2 Health Risk Pathogenic —
RS796053519 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS796053520 TSC2 Health Risk Pathogenic —
RS796053521 RFT1 Health Risk Pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS796053522 RFT1 Health Risk Pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS79606317 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS796064501 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS796064502 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS796064503 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS796064508 CBLIF Health Risk Pathogenic Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS796064510 MTHFD1 Health Risk Pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
RS796064513 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, MMACHC-related disorder
RS796065022 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS796065023 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS796065024 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS796065025 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS796065026 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS796065027 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS796065028 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS796065029 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS796065030 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS796065031 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS796065032 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS796065033 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS796065034 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency
RS796065035 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency
RS796065036 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS796065037 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS796065038 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS796065040 AHDC1 Health Risk Pathogenic —
RS796065041 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS796065042 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS796065043 AHDC1 Health Risk Pathogenic —
RS796065044 SLC34A2 Health Risk Pathogenic PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
RS796065045 NOTCH3 Health Risk Pathogenic Lateral meningocele syndrome, Lateral meningocele syndrome
RS796065046 ALDH6A1 Health Risk Pathogenic Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS796065051 BRD7 Health Risk Likely pathogenic Granular cell cancer, Granular cell cancer
RS796065052 STAT1 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS796065053 ATF6 Health Risk Pathogenic Achromatopsia 7, Bilateral sensorineural hearing impairment
RS796065303 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS796065304 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS796065306 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS796065307 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS796065308 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Inborn genetic diseases
RS796065309 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS796065310 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS796065311 MAOA Health Risk Pathogenic Brunner syndrome, Brunner syndrome
RS796065312 MAOA Health Risk Pathogenic/Likely pathogenic Brunner syndrome, Brunner syndrome
RS796065318 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS796065319 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS796065325 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS796065328 KMT2D Health Risk Pathogenic —
RS796065331 RPGR Health Risk Likely pathogenic RPGR-related retinopathy, Retinal dystrophy
RS796065332 CFTR Health Risk Pathogenic —
RS796065333 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS796065337 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS796065338 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS796065340 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS796065341 NOTCH1 Health Risk Pathogenic Early T cell progenitor acute lymphoblastic leukemia, Early T cell progenitor acute lymphoblastic leukemia
RS796065342 DNMT3A Health Risk Pathogenic Early T cell progenitor acute lymphoblastic leukemia, Early T cell progenitor acute lymphoblastic leukemia
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