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
RS777066674 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS777066716 DOCK8 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS777066875 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS777067201 ATG7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 31
RS777067647 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS777068372 TUSC3 Health Risk Pathogenic —
RS777068696 BRIP1 Health Risk Likely pathogenic —
RS777069125 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS777069665 SPATA7 Health Risk Pathogenic/Likely pathogenic SPATA7-related disorder, Retinal dystrophy
RS777070083 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS777070451 DNAH3 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Spermatogenic failure 18
RS777071414 FARSB Health Risk Pathogenic/Likely pathogenic Rajab interstitial lung disease with brain calcifications, Rajab interstitial lung disease with brain calcifications 1
RS777072262 DOCK8 Health Risk Conflicting classifications of pathogenicity DOCK8-related disorder, DOCK8-related disorder
RS777074432 PRKN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777075341 TG Health Risk Pathogenic/Likely pathogenic —
RS777075412 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS777076470 CAMK2B Health Risk Conflicting classifications of pathogenicity —
RS777076650 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS777077280 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS777077674 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777078540 ABCA4 Health Risk Conflicting classifications of pathogenicity Stargardt disease, Cone-rod dystrophy 3
RS777079867 MSH4 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS777080028 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS777080769 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS777081940 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS777083018 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS777083529 HR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777083831 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS777088158 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS777088497 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS777089012 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777089127 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency 1
RS777090883 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
RS777091470 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS777091779 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS777092009 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS777092073 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS777092269 TMEM67 Health Risk Likely pathogenic Joubert syndrome and related disorders, Meckel-Gruber syndrome
RS777092393 CEP131 Health Risk Conflicting classifications of pathogenicity —
RS77709286 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Pheochromocytoma
RS777093572 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777093701 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS777093715 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS777094000 GRK1 Health Risk Pathogenic/Likely pathogenic Oguchi disease-2, Retinal dystrophy
RS777094216 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777095030 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777095602 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS777096311 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS777096501 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS777096695 AGK Health Risk Pathogenic Sengers syndrome, Cataract 38
RS777096831 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, Inborn genetic diseases
RS777096903 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS777097924 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777097951 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS777098264 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS777099958 FTCD Health Risk Conflicting classifications of pathogenicity Glutamate formiminotransferase deficiency, Inborn genetic diseases
RS777100034 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS777100179 TMPRSS3 Health Risk Likely pathogenic —
RS77710036 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS777100532 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS77710085 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS777101467 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777101912 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777102216 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777102590 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS777103184 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS777103374 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS777103421 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS777104003 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777104457 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS777105764 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777106028 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS777106047 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS777106559 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS777106945 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS777107156 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777108086 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS777108430 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777108697 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777109448 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS77711105 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Hereditary cancer-predisposing syndrome
RS777111649 PANK2 Health Risk Pathogenic PANK2-related disorder, Pigmentary pallidal degeneration
RS777112022 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS777112605 MYO15A Health Risk Pathogenic —
RS777112610 IFT43 Health Risk Likely pathogenic Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly
RS777112652 CDC14A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS777113065 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS777113752 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS777114537 SLCO2A1 Health Risk Likely pathogenic —
RS777114603 CRB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS777114729 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS777116853 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS777118100 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777118863 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS777118903 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS777119489 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS777119867 TTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777120567 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS777120634 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS777120727 RLBP1 Health Risk Conflicting classifications of pathogenicity —
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