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
RS1564106503 ZNF462 Health Risk Likely pathogenic —
RS1564110292 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Medulloblastoma
RS1564113368 WHRN Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1564123602 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1564131885 C5 Health Risk Likely pathogenic —
RS1564136499 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1564143881 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1564145502 GLE1 Health Risk Pathogenic/Likely pathogenic Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS1564146922 NR5A1 Health Risk Likely pathogenic 46, XY disorder of sex development
RS1564150329 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS1564153753 NR5A1 Health Risk Conflicting classifications of pathogenicity 46, XX sex reversal 4
RS1564157745 GABBR2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 59
RS1564161224 TGFBR1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1564161322 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Isolated thoracic aortic aneurysm
RS1564161544 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS1564165829 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS1564169730 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1564171882 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1564177022 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS1564180346 GFI1B Health Risk Pathogenic Storage pool disease of platelets, Storage pool disease of platelets
RS1564191302 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1564191682 COL5A1 Health Risk Pathogenic —
RS1564191704 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564193130 INVS Health Risk Pathogenic —
RS1564197227 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS1564199476 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1564202579 PTPA Health Risk Pathogenic Parkinson disease 25, autosomal recessive early-onset
RS1564217246 TRIM32 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 11, Sarcotubular myopathy
RS1564218190 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1564228101 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1564229174 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS1564229228 FRRS1L Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 37
RS1564232243 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS1564236717 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1564249350 WHRN Health Risk Pathogenic —
RS1564278864 MAN1B1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1564281411 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1564281463 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1564282020 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1564284467 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1564286708 SPTAN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 5
RS1564287793 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS1564287871 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1564290079 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1564290459 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1564290914 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1564297234 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1564300408 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS1564300888 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS1564301594 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1564304413 GPAA1 Health Risk Likely pathogenic —
RS1564307664 RPL35 Health Risk Pathogenic Diamond-Blackfan anemia 19, Diamond-Blackfan anemia 19
RS1564311909 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1564313667 SHARPIN Health Risk Pathogenic Autoinflammation with episodic fever and immune dysregulation, Autoinflammation with episodic fever and immune dysregulation
RS1564315398 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1564325733 POMT1 Health Risk Pathogenic Dysgenesis of the cerebellar vermis, Dysgenesis of the cerebellar vermis
RS1564326640 FXN Health Risk Likely pathogenic —
RS1564328617 DNM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1564332930 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS1564333757 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1564336750 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1564338190 CDK5RAP2 Health Risk Likely pathogenic —
RS1564340685 GRIN1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
RS1564341846 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1564346538 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1564349087 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1564349176 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1564349850 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1564351084 STXBP1 Health Risk Pathogenic —
RS1564351103 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1564351269 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1564351388 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1564352002 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1564354299 KCNT1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1564354968 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS1564355393 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1564355614 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1564355642 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1564356269 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1564357089 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1564360451 OPTN Health Risk Pathogenic/Likely pathogenic —
RS1564360978 SET Health Risk Likely pathogenic Intellectual disability, autosomal dominant 58
RS1564363665 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1564364189 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1564364615 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1564365123 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS1564365317 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1564365418 GRIN1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1564365706 LAMC3 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS1564367104 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1564367364 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1564367605 KCNT1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1564368059 LAMC3 Health Risk Likely pathogenic —
RS1564371083 LAMC3 Health Risk Likely pathogenic —
RS1564375476 LAMC3 Health Risk Pathogenic —
RS1564378996 CRB2 Health Risk Pathogenic —
RS1564379463 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1564381395 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1564385081 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2A2
RS1564386891 TPRN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
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