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
RS1809302381 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1809305398 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS180931319 LAMA4 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS180941579 LRP5 Health Risk Conflicting classifications of pathogenicity Microcephaly, 6 conditions
RS1809447471 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS180949557 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS1809500885 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease recessive intermediate A
RS180951130 MYO1E Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS180953647 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1809594670 TTI2 Health Risk Pathogenic —
RS1809634616 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1809647915 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS180966130 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS180967093 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS180969459 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS180970066 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
RS180970138 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS180974014 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS180975253 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS180975448 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1809815205 RPS20 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS180982841 PCCB Health Risk Conflicting classifications of pathogenicity Global developmental delay, Hyperammonemia
RS180984980 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS180985111 MET Health Risk Conflicting classifications of pathogenicity Lymphedema, Papillary renal cell carcinoma type 1
RS180992388 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1809977682 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1809981172 VPS13B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1810005490 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1810006084 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181002879 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1810030774 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810031465 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS1810033651 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810033982 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810034093 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810034741 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810038215 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181007123 ZFPM2 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 9
RS181008242 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1810086193 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1810088202 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181010373 SIX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 2
RS181010692 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder
RS181011657 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS181011884 HPS5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS181012139 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
RS181012655 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS181016343 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1810183784 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181018393 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS181019457 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS1810212221 ABCB4 Health Risk Pathogenic/Likely pathogenic —
RS181021602 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS1810267412 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810270891 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810272926 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1810312864 PDP1 Health Risk Likely pathogenic Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency
RS1810390889 IKZF1 Health Risk Likely pathogenic —
RS181040532 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS181043208 EFL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS181044510 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma-pancreatic cancer syndrome, Malignant tumor of esophagus
RS1810518393 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1810519877 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1810527499 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810529464 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1810540992 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181055215 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS181056704 HIVEP1 Health Risk Conflicting classifications of pathogenicity —
RS181059522 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS181059661 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, Inborn genetic diseases
RS1810610818 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS181061162 ZNF335 Health Risk Conflicting classifications of pathogenicity —
RS1810653364 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS181066089 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1810667631 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181067357 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1810676263 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1810682433 RRM2B Health Risk Conflicting classifications of pathogenicity Rod-cone dystrophy, Sensorineural hearing loss disorder
RS1810702908 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS181070478 RAB39B Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 72
RS1810710453 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1810791017 FDFT1 Health Risk Likely pathogenic Squalene synthase deficiency, Squalene synthase deficiency
RS1810830776 VPS13B Health Risk Pathogenic Microcephaly, Cohen syndrome
RS1810856747 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181087667 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS181088115 PQBP1 Health Risk Conflicting classifications of pathogenicity —
RS1810924520 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS181092713 LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS1810936262 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS181095005 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS181096982 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1810973688 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 64
RS181099623 FBN1 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 1, isolated
RS181099904 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1811011518 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 64
RS1811018177 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS1811046695 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS181106858 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS181107730 TCTN3 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome IV, Joubert syndrome 18
RS1811079863 RAD54B Health Risk Likely pathogenic —
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