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
RS115888073 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS115888189 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1158898827 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1158911896 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1158912574 OBSCN Health Risk Pathogenic —
RS1158922559 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115893145 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1158932542 MME Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS1158937060 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS1158945258 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS115897458 SPATA16 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 6, Spermatogenic failure 6
RS1158991453 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1159002597 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS1159003478 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS115901054 IFI44L Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS115902639 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1159055932 NR2F1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1159059721 ADAMTS10 Health Risk Likely pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS1159078705 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1159099773 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1159120623 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS115913736 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1159141633 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS115916398 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS115916702 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS115919416 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1159208891 GALNT3 Health Risk Likely pathogenic —
RS1159210445 TECTA Health Risk Conflicting classifications of pathogenicity —
RS1159211374 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS11592273 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS115923556 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1159235757 DHX37 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS115924432 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1159246607 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Cortical dysplasia-focal epilepsy syndrome
RS1159247790 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Long QT syndrome
RS1159249168 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1159266550 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1159267877 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1159275615 CNTNAP1 Health Risk Pathogenic —
RS1159276152 TBX4 Health Risk Likely pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS115931022 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1159319927 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS1159326316 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS115936153 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS115937161 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS115937511 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS1159382283 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS115938552 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS1159393836 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS115942812 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1159447874 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1159449478 SHOX Health Risk Likely pathogenic SHOX-related short stature, SHOX-related short stature
RS1159465602 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Meckel syndrome
RS1159477032 TCF3 Health Risk Pathogenic —
RS115948943 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS1159509898 MBD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1159514085 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1159551738 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1159579789 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1159580160 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS115958467 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, CHIME syndrome
RS1159593196 RGS9 Health Risk Pathogenic —
RS1159593580 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1159597886 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1159600703 RNF170 Health Risk Likely pathogenic Spastic paraplegia 85, autosomal recessive
RS1159609485 ARL13B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1159611979 KMT2D Health Risk Likely pathogenic —
RS1159625966 ABCC8 Health Risk Pathogenic —
RS1159635090 CAD Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 50
RS1159651127 YARS2 Health Risk Pathogenic —
RS1159666762 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS1159673131 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS1159674022 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS115967793 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1159677951 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1159680987 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1159691474 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS1159700153 NUP85 Health Risk Likely pathogenic Nephrotic syndrome, type 17
RS1159701068 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS115972761 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases
RS115973206 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1159737562 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS1159756073 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1159758018 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1159759744 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115976458 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy
RS115977282 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Achondrogenesis
RS1159774355 IFT27 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1159780956 F11 Health Risk Likely pathogenic —
RS1159793989 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1159796938 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS1159807733 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS115981067 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1159823492 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1159832284 CD19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115985012 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1159854007 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS115985443 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1159856922 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1159859904 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
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