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
RS367543029 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543030 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543031 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543032 BLM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS367543033 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543034 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS367543035 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543036 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS367543038 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543039 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543041 TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS
RS367543043 BLM Health Risk Pathogenic Bloom syndrome, Hereditary breast ovarian cancer syndrome
RS367543046 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS367543048 ACTA1 Health Risk Pathogenic/Likely pathogenic Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
RS367543049 ACTA1 Health Risk Pathogenic/Likely pathogenic Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
RS367543052 MYH7 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy
RS367543055 RYR1 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, RYR1-related disorder
RS367543058 RYR1 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, Central core myopathy
RS367543059 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS367543061 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Joubert syndrome and related disorders
RS367543062 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS367543063 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS367543064 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS367543065 TCTN1 Health Risk Pathogenic Joubert syndrome 13, Joubert syndrome 13
RS367543066 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS367543067 TYR Health Risk Likely pathogenic —
RS367543068 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS367543069 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS367543070 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS367543072 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS367543073 B3GALNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS367543075 B3GALNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS367543076 B3GALNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS367543077 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS367543120 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS367543124 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS367543132 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS367543145 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS367543256 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543258 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS367543260 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543262 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543263 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543266 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS367543267 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543268 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543271 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543272 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543273 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543282 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS367543284 SH3PXD2B Health Risk Pathogenic Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS367543285 NOTCH3 Health Risk Pathogenic Myofibromatosis, infantile
RS367543286 PDGFRB Health Risk Pathogenic Myofibromatosis, infantile
RS367543496 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS367543552 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367543871 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS367544716 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS367545984 VHL Health Risk Likely pathogenic —
RS367546131 EYS Health Risk Pathogenic —
RS367546924 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS367547063 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
RS367547253 SETD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome
RS367548433 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS367548480 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS367548624 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS367549284 IMPDH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leber congenital amaurosis 11
RS367549881 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS367549998 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS367550855 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS367551573 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS367552151 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS367553206 TSC2 Health Risk Pathogenic —
RS367553801 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS367556839 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS367557471 CHD7 Health Risk Likely pathogenic Atrial septal defect, Pyloric stenosis
RS367558510 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS367559440 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS367559858 AGAP1 Health Risk Conflicting classifications of pathogenicity —
RS367560074 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS367560131 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS367560509 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS367560550 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS367560743 GNRHR Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS367560855 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS367563077 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS367563723 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS367564272 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Familial cancer of breast
RS367564566 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS367565995 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS367566671 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367567416 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS367567630 CLCN7 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS367568223 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS367568441 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS367569053 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS367569299 F9 Health Risk Benign; association Hereditary factor IX deficiency disease, Warfarin sensitivity
RS367570129 ALG14 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 15, Congenital myasthenic syndrome 15
RS367570298 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Short QT syndrome type 1
RS367570778 TRMU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRMU-related disorder
RS367572249 SDCCAG8 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 16
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