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
RS1217292644 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS12172928 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1217317914 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1217318105 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1217351630 CYP1B1 Health Risk Pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS1217390170 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1217391623 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1217416700 ZMPSTE24 Health Risk Pathogenic/Likely pathogenic Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24-related disorder
RS1217462358 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS1217469928 SLC24A5 Health Risk Pathogenic —
RS1217477812 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1217487621 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1217492313 MYO15A Health Risk Pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 3
RS1217507627 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1217511479 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1217539900 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1217545832 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS1217545964 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS12175488 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1217566598 PCNT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1217582584 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS1217603879 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1217606886 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1217608616 CTF1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1217618479 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1217642695 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1217701354 GALNT3 Health Risk Likely pathogenic —
RS1217725909 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1217750168 ELP1 Health Risk Pathogenic —
RS1217782958 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1217820916 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1217842024 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1217845018 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia 18, Primary ciliary dyskinesia 18
RS1217853804 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1217858818 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1217872164 ASH1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1217879599 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1217913746 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1217925678 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS1217932471 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1217932827 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1217935335 STAR Health Risk Pathogenic —
RS1217945461 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1217968843 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1217977493 RB1 Health Risk Pathogenic Retinoblastoma, Neoplasm
RS1217980053 NRL Health Risk Pathogenic —
RS1217989194 LAMA2 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS1218016810 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS1218054241 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1218073575 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1218081251 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1218098329 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1218098769 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS1218108009 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS1218113889 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1218125365 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1218129705 HK1 Health Risk Conflicting classifications of pathogenicity —
RS1218169126 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia
RS1218193751 PCBD1 Health Risk Likely pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS1218198013 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, DYNC2H1-related disorder
RS1218240557 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1218246247 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1218254964 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1218259827 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1218260846 MCM3AP Health Risk Pathogenic —
RS1218279399 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1218288858 POLE Health Risk Conflicting classifications of pathogenicity —
RS1218292786 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1218299104 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1218307301 TNFAIP3 Health Risk Likely pathogenic —
RS1218312896 DSPP Health Risk Conflicting classifications of pathogenicity Dentinogenesis imperfecta type 2, Inborn genetic diseases
RS1218322078 SFTPB Health Risk Pathogenic —
RS1218404300 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS1218449046 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1218452123 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1218453896 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1218465638 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1218470259 COL4A3 Health Risk Pathogenic —
RS1218485537 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS1218494857 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1218512317 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1218545995 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1218545996 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1218564193 AR Health Risk Likely pathogenic Male infertility, Male infertility
RS1218568487 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1218568607 IMPDH1 Health Risk Pathogenic —
RS1218573239 GON7 Health Risk Pathogenic Galloway-Mowat syndrome 9, Galloway-Mowat syndrome
RS1218576358 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1218582533 LRP4 Health Risk Pathogenic Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
RS1218605372 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1218605669 HMBS Health Risk Pathogenic —
RS1218620893 NOBOX Health Risk Likely pathogenic Premature ovarian failure 5, Premature ovarian failure 5
RS1218625160 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1218651787 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS1218679983 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1218684009 ORC4 Health Risk Pathogenic —
RS1218693745 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1218693921 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1218695159 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1218712729 KIF5A Health Risk risk factor Amyotrophic lateral sclerosis, susceptibility to
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