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
RS1888229658 CHD8 Health Risk Pathogenic —
RS188824058 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1888252890 PABPN1 Health Risk Pathogenic/Likely pathogenic Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1
RS1888253108 PABPN1 Health Risk Pathogenic —
RS1888255467 PABPN1 Health Risk Pathogenic —
RS1888277300 CHD8 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1888277669 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1888277745 CHD8 Health Risk Pathogenic —
RS1888281367 FANCM Health Risk Pathogenic Spermatogenic failure 28, Spermatogenic failure 28
RS188833040 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS1888355872 CHD8 Health Risk Likely pathogenic —
RS188835994 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1888382829 OTOGL Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS188840021 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS188840960 MPDZ Health Risk Conflicting classifications of pathogenicity MPDZ-related disorder, MPDZ-related disorder
RS1888412524 TSHR Health Risk Likely pathogenic —
RS188843586 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS1888447684 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1888473716 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS188847458 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS188848517 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS1888489281 SPRED1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Legius syndrome
RS1888490204 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS188849668 GPR179 Health Risk Conflicting classifications of pathogenicity —
RS188850202 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS188852505 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Melanoma
RS188853520 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS188853533 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS188854022 PSAP Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency
RS1888584152 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1888605629 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1888623566 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS188863534 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1888636005 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS188866014 ALPK1 Health Risk Conflicting classifications of pathogenicity —
RS1888662319 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1888681090 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS188868966 CACNA1B Health Risk Conflicting classifications of pathogenicity CACNA1B-related disorder, CACNA1B-related disorder
RS188869698 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1888700304 CHD8 Health Risk Conflicting classifications of pathogenicity Congenital ptosis, Overgrowth
RS1888700404 CHD8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1888701877 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1888718087 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1888735204 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCM-related disorder
RS1888737946 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS188874441 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS1888745759 TMEM260 Health Risk Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS188875641 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS1888779255 TGDS Health Risk Likely pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS188878341 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS188879204 GLMN Health Risk Conflicting classifications of pathogenicity Glomuvenous malformation, Inborn genetic diseases
RS1888829999 TSHR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1888838395 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS188885755 CYP17A1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS188887858 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS188888662 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS188888939 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS188891842 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS1888974364 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS188900275 STIL Health Risk Conflicting classifications of pathogenicity —
RS1889019962 VRK1 Health Risk Pathogenic Spinal muscular atrophy, Pontocerebellar hypoplasia type 1A
RS188902048 SAMD9L Health Risk Conflicting classifications of pathogenicity Microcephaly, Inborn genetic diseases
RS188905854 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1889064732 FANCM Health Risk Likely pathogenic —
RS188908415 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS1889085249 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS188914598 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS188916371 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS188917199 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1889172738 TGDS Health Risk Likely pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS188919648 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1889219103 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Premature ovarian failure 15
RS1889265791 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS1889277232 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1889286788 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1889332652 FANCM Health Risk Conflicting classifications of pathogenicity FANCM-related disorder, Inborn genetic diseases
RS188933728 SLC5A6 Health Risk Pathogenic Neurodegeneration, infantile-onset
RS188935092 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS188936128 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS1889443484 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1889443535 GATM Health Risk Pathogenic Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 1
RS1889477819 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1889480453 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1889493279 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS1889499325 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1889521207 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS1889542235 TRPV4 Health Risk Likely pathogenic —
RS188954563 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Brittle cornea syndrome 1
RS1889547375 TRPV4 Health Risk Likely pathogenic —
RS1889549195 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS188955444 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1889561523 EIF2B2 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS1889569618 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS188957129 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS188959117 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS1889591634 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1889609465 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS188961105 PHF6 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases
RS1889613187 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1889618137 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
« Prev 1 ... 1309 1310 1311 1312 1313 1314 1315 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →