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
RS138775799 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS138776220 NUP205 Health Risk Conflicting classifications of pathogenicity —
RS1387762631 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS138776588 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS138776684 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS138776960 MADD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138777049 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS138777262 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS1387778734 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1387780751 NALCN Health Risk Likely pathogenic —
RS138778484 LMNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1387784932 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1387788860 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS138779023 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1387802849 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1387802855 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS138780791 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS138781159 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1387815998 LRP2 Health Risk Pathogenic —
RS138782455 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS138783302 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome
RS1387835815 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS138783896 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS138784081 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS138784430 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS138784666 DIABLO Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64
RS138784762 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome
RS138785106 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS138785249 MYRF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138786388 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS1387867750 USH1C Health Risk Likely pathogenic —
RS1387872889 DSPP Health Risk Conflicting classifications of pathogenicity —
RS138787321 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1387875174 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS138787975 ATP13A4 Health Risk Conflicting classifications of pathogenicity ATP13A4-related disorder, ATP13A4-related disorder
RS138788183 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, ALDH4A1-related disorder
RS138788406 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS138789360 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS138789637 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS138789658 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS138789938 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1387899682 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS138790252 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS1387903645 TCIRG1 Health Risk Pathogenic TCIRG1-related disorder, TCIRG1-related disorder
RS138791004 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS138791086 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases
RS1387916046 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS138792258 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, PYCR1-related disorder
RS138792819 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, COL11A1-related disorder
RS1387931144 RAB3GAP2 Health Risk Pathogenic —
RS138793555 IMPG2 Health Risk Pathogenic IMPG2-related disorder, IMPG2-related disorder
RS1387950081 CNP Health Risk Pathogenic Myopia 2, autosomal dominant
RS138795531 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Inborn genetic diseases
RS138796052 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS138796072 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1387962158 SBDS Health Risk Likely pathogenic Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS138796800 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, DBT-related disorder
RS138796822 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS138797058 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS138797097 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS1387972965 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS138797911 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS138798067 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS138799232 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS138800291 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS138800446 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1388016179 KMT2A Health Risk Conflicting classifications of pathogenicity KMT2A-related disorder, Wiedemann-Steiner syndrome
RS1388023086 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS138803413 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS138803628 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138803855 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, Inborn genetic diseases
RS1388040238 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome
RS1388040598 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS138805251 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS138805494 COCH Health Risk Conflicting classifications of pathogenicity —
RS138808610 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS138808784 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, FAT2-related disorder
RS138809166 GPR143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1388095672 NRXN1 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS138809906 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1388106856 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS138810908 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Hyper-IgE recurrent infection syndrome 3
RS138811155 PCDH12 Health Risk Conflicting classifications of pathogenicity Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases
RS138811990 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS138812333 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS138812345 PPP1R3A Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS138812517 ARSH Health Risk Conflicting classifications of pathogenicity —
RS138812566 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS138812846 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1388128874 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1388130536 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS138814793 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1388158419 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS138815960 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia 22, Kartagener syndrome
RS138816053 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS1388161283 USH2A Health Risk Pathogenic —
RS138816491 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS138817140 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1388177618 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1388178333 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
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