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
RS111033827 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033829 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033831 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033832 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033836 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033838 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033848 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033849 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1110400 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS11104729 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Joubert syndrome 5
RS111052004 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS111060773 OTC Health Risk Pathogenic —
RS111060774 OTC Health Risk Pathogenic —
RS1110991 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS111113624 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS111113625 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS111231312 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111231879 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111239111 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111241046 GPD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111243479 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS111246617 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS111247323 L1CAM Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS111248269 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS111250144 DNAAF3-AS1;TNNI3;DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Hypertrophic cardiomyopathy 7
RS111250264 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111254723 PMS1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS11125529 ACYP2 Health Risk association Chronic osteomyelitis, Chronic osteomyelitis
RS111256477 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS111256741 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS111256750 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS111257462 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS111262307 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS111262341 GREM1 Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Hereditary cancer-predisposing syndrome
RS111265848 FSIP2 Health Risk Conflicting classifications of pathogenicity —
RS111266450 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS111266804 ATP2A1 Health Risk Likely pathogenic Brody myopathy, Brody myopathy
RS111270711 PAX6 Health Risk Conflicting classifications of pathogenicity Foveal hypoplasia 1, Anophthalmia-microphthalmia syndrome
RS111271660 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS111280997 APC2 Health Risk Conflicting classifications of pathogenicity —
RS111281600 CENPE Health Risk Conflicting classifications of pathogenicity CENPE-related disorder, CENPE-related disorder
RS111282958 TTN Health Risk Conflicting classifications of pathogenicity —
RS111283999 GATA3 Health Risk Pathogenic/Likely pathogenic Hypoparathyroidism, deafness
RS111286066 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS111286659 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS111288905 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS111290936 EIF4G1 Health Risk risk factor Parkinson disease 18, autosomal dominant
RS111291014 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS111293259 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS111294855 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS111295967 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS111297226 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS111298318 KRT74 Health Risk Conflicting classifications of pathogenicity —
RS111300270 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS111302956 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS111306515 HSPG2 Health Risk Likely pathogenic Lethal Kniest-like syndrome, Schwartz-Jampel syndrome type 1
RS111306749 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS111306884 FLNA Health Risk Likely pathogenic Attenuated frontometaphyseal dysplasia, Attenuated frontometaphyseal dysplasia
RS11130760 FHIT Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS111312760 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS111313628 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS111314129 WNT10A Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS111315726 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS111316318 NEK9 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, Perthes disease
RS111316898 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS111316957 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111320552 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Cataract 36
RS111320759 MGP Health Risk Pathogenic/Likely pathogenic Keutel syndrome, Keutel syndrome
RS111321293 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS111324750 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS111325146 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS111327589 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS111331642 ARHGDIA Health Risk Conflicting classifications of pathogenicity ARHGDIA-related disorder, ARHGDIA-related disorder
RS111341650 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS111342797 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS111344340 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS111344408 TNNT2 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Cardiomyopathy
RS111347025 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis
RS111347361 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS111353791 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS111356679 TFG Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy, Okinawa type
RS111358560 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS111360822 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS111360923 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS111363334 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Inborn genetic diseases
RS111364296 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS111364670 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS111366222 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS111367233 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS111367604 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS111368396 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS111369573 PSAP Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency
RS111370546 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS111370716 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS111371929 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 2, Meckel syndrome
RS111373423 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, MYL2-related disorder
RS111377893 TNNT2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS111379417 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS111380006 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS111381550 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
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