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
RS113182334 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS113184057 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS113187031 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS113187448 TCAP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G, Autosomal recessive limb-girdle muscular dystrophy type 2G
RS1131978 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS113200355 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Ectopia lentis 1
RS113202862 CATSPER1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS113203757 DOCK8 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS113204979 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS113207856 B4GALNT1 Health Risk Conflicting classifications of pathogenicity —
RS113208348 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS113208940 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS113209379 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS113210810 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS113210953 RYR1 Health Risk Pathogenic Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS113216558 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS113218289 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS113219139 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS113221201 HSPG2 Health Risk Likely pathogenic —
RS113223137 COL7A1 Health Risk Likely pathogenic —
RS113227300 PEX19 Health Risk Likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS113235875 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS113238468 COL2A1 Health Risk Conflicting classifications of pathogenicity 15 conditions, 15 conditions
RS113239817 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS113246280 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS113246945 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS113247976 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS113249837 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113251155 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS113253213 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS113260160 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS113262912 ACTG1 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS113263597 SERPING1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS113268476 AMBP Health Risk Conflicting classifications of pathogenicity —
RS113276889 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS113277624 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS11327935 COL1A1 Health Risk association Bone mineral density variation quantitative trait locus, Bone mineral density variation quantitative trait locus
RS113282510 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS113283088 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS113284884 PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
RS113289730 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2 deficiency
RS113290650 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113296395 C12orf57 Health Risk Conflicting classifications of pathogenicity C12orf57-related disorder, C12orf57-related disorder
RS113298164 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, High density lipoprotein cholesterol level quantitative trait locus 12
RS113301033 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS113303272 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS113304344 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS113304476 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS113307140 BCL11A Health Risk Conflicting classifications of pathogenicity Dias-Logan syndrome, Dias-Logan syndrome
RS113307290 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS113307454 CFHR1 Health Risk Conflicting classifications of pathogenicity —
RS113308087 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS113309941 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS113314808 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS113315676 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, LRP5-related disorder
RS113315765 CAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CAST-related disorder
RS113317262 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS113319791 ATP10A Health Risk Conflicting classifications of pathogenicity —
RS113326313 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113329155 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS113331139 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS113331868 CAMK2A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS113332380 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS113334360 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113337758 STIL Health Risk Conflicting classifications of pathogenicity —
RS113339948 TRRAP Health Risk Conflicting classifications of pathogenicity See cases, TRRAP-related disorder
RS113340633 CCR2 Health Risk Pathogenic Cystic disease of lung, Cystic disease of lung
RS113342704 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS113342730 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS113345335 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS113345553 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS113348354 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Inborn genetic diseases
RS113349726 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS113354770 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS1133577 ABCB7 Health Risk Conflicting classifications of pathogenicity —
RS1133578 ABCB7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113358058 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS113358395 COQ8B Health Risk Conflicting classifications of pathogenicity COQ8B-related disorder, Retinitis pigmentosa
RS113358486 MYBPC3 Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS113359492 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS113360085 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS113364886 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Kidney disorder
RS113365744 PSAP Health Risk Likely pathogenic Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency
RS113367095 HPD Health Risk Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS113369052 KRT6A Health Risk Likely pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS11337008 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS113371321 NPC1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Niemann-Pick disease
RS113371619 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder
RS113371687 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS113374262 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS113378925 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS113379223 RYR1 Health Risk Likely pathogenic RYR1-related myopathy, RYR1-related myopathy
RS113380434 ACTN2 Health Risk Likely pathogenic —
RS113381494 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS113381589 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS113384495 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 1, Retinitis pigmentosa
RS113386477 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases
RS113390459 ITGB4 Health Risk Likely pathogenic —
RS113391831 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS113393241 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Limb-girdle muscular dystrophy
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