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
RS200924727 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS200925761 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS200925890 ERCC6;PGBD3 Health Risk Conflicting classifications of pathogenicity —
RS200926050 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200926144 CLDN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200926225 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 16
RS200926310 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Thrombocytopenia
RS200926400 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS200926839 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SPTB-related disorder
RS200926928 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, HEXA-related disorder
RS200927261 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS200927282 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS200927402 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS200927709 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS200927747 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS200927981 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Malignant tumor of esophagus
RS200928046 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS200928212 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS200928771 COL27A1 Health Risk Conflicting classifications of pathogenicity —
RS200928780 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS200928781 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200928844 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS200928985 DMD Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Becker muscular dystrophy
RS200929000 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200929552 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS200929620 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS200929799 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS200930248 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200930332 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS200930463 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS200930493 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS200930593 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200930613 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS200930670 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200930743 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment
RS200930800 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS200930907 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS200931112 PEPD Health Risk Conflicting classifications of pathogenicity —
RS200931731 TUBB1 Health Risk Conflicting classifications of pathogenicity TUBB1-related disorder, TUBB1-related disorder
RS200931793 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200931999 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS200932258 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS200932405 OTOG Health Risk Conflicting classifications of pathogenicity —
RS200933425 CDH2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia, familial
RS200933607 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS200933894 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS200933935 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200934080 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS200934105 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS200934141 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Retinal dystrophy
RS200934249 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200934309 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS200934871 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS200935038 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS200935123 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS200935209 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS200935246 NRXN1 Health Risk Conflicting classifications of pathogenicity Chromosome 2p16.3 deletion syndrome, Pitt-Hopkins-like syndrome 2
RS200935305 COCH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200935345 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS200935357 DOCK6 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 2, DOCK6-related disorder
RS200935960 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS200936638 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS200936835 TYR Health Risk Conflicting classifications of pathogenicity —
RS200936863 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Retinitis pigmentosa
RS200937244 TET3 Health Risk Conflicting classifications of pathogenicity —
RS200937358 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200937538 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200937562 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS200937692 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, CLCN7-related disorder
RS200937717 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS200938111 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS200938360 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS200938473 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS200938793 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200938874 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS200939906 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS200939953 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS200939989 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200940166 STEAP3 Health Risk Conflicting classifications of pathogenicity —
RS200940188 GPRASP1 Health Risk Conflicting classifications of pathogenicity GPRASP1-related disorder, GPRASP1-related disorder
RS200940197 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS200940211 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200940558 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS200941376 KRT12 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Meesmann
RS200941579 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome
RS200941778 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS200941841 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200942439 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS200942733 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS200942884 COX10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex IV deficiency
RS200943280 ADGRV1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Usher syndrome type 2
RS200943355 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200943384 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS200943680 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200943714 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS200943999 CTNND1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200944504 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200944827 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200944853 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS200944917 TOP3A Health Risk Pathogenic Mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions
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