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
RS34713174 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS34715198 POMK Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS34716011 HBB Health Risk Pathogenic beta Thalassemia, 8 conditions
RS34718174 HBB Health Risk Conflicting classifications of pathogenicity —
RS34718443 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS34719006 ATP8B1 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS34722354 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder
RS34723289 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS34725869 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS34731820 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS34738009 ATPAF2 Health Risk Conflicting classifications of pathogenicity —
RS34738426 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS34741387 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Tip-toe gait
RS34741956 MPIG6B Health Risk Likely pathogenic Thrombocytopenia, anemia
RS34747774 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, UTP4-related disorder
RS34750035 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34751757 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS34754160 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS34754243 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 1
RS34757931 VPS11 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy, Hypomyelinating leukodystrophy 12
RS34761059 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS34761938 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS34764419 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS34764749 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS34767364 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS34767818 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS34768093 CDH23 Health Risk Pathogenic —
RS34769999 CLDN9 Health Risk Likely pathogenic Hearing loss, autosomal recessive 116
RS34771391 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS34771837 ELP4 Health Risk Conflicting classifications of pathogenicity —
RS34776339 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS34778348 LRRK2 Health Risk Conflicting classifications of pathogenicity; risk factor Autosomal dominant Parkinson disease 8, Parkinson disease
RS34779331 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS34779890 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS34788119 EXPH5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS34788341 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucopolysaccharidosis
RS34791072 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases
RS34792388 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS34794176 SCEL Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS34796823 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS34799090 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS34803727 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS34804482 LGR4 Health Risk Pathogenic Delayed puberty, self-limited
RS34805604 LRRK2 Health Risk Pathogenic Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS34809449 HBG2 Health Risk Pathogenic Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS34809608 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS34809925 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, Beta thalassemia intermedia
RS34812788 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS34813378 C1QB Health Risk Likely pathogenic C1Q deficiency, C1Q deficiency
RS34813787 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS34816083 UNC79 Health Risk Conflicting classifications of pathogenicity Prostate cancer, Prostate cancer
RS34819316 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, SLC12A1-related disorder
RS34830422 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS34830702 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, STXBP1-related disorder
RS34830861 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS34831026 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN ATHENS-GEORGIA, 8 conditions
RS34831847 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34832733 APOA5 Health Risk Conflicting classifications of pathogenicity —
RS34833100 SPDL1 Health Risk Conflicting classifications of pathogenicity —
RS34840340 TBCK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TBCK-related disorder
RS34846075 MYO10 Health Risk Conflicting classifications of pathogenicity —
RS34849215 IFNAR1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 106, susceptibility to viral infections
RS34851638 TECTA Health Risk Pathogenic/Likely pathogenic Hearing impairment, Hearing impairment
RS34856125 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
RS34856846 HBB Health Risk Pathogenic Beta zero thalassemia, Hemoglobinopathy
RS34859138 CEP250 Health Risk Pathogenic —
RS34864794 ZNF142 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS34870876 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS34873950 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34875116 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS34876841 CTSC Health Risk Pathogenic/Likely pathogenic Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS34878178 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, G6PC3-related disorder
RS34878385 KANSL1 Health Risk Likely pathogenic —
RS34878847 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism type 1A
RS34883113 HBA1 Health Risk Pathogenic alpha Thalassemia, Hemoglobin H disease
RS34883338 HBB Health Risk Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS34884895 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS34885143 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, BTD-related disorder
RS34885858 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS34886500 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma-pancreatic cancer syndrome, Familial melanoma
RS34886778 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS34889882 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS34890640 JUP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12
RS34890806 GUCY2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
RS34893635 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS34901902 GNPTAB Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS34908868 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS34911341 GHRL Health Risk risk factor Metabolic syndrome, susceptibility to
RS34911705 MPDZ Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS34911792 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS34915313 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS34916226 CUL7 Health Risk Conflicting classifications of pathogenicity CUL7-related disorder, 3M syndrome 1
RS34919986 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS34921128 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS34924076 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS34924609 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS34925776 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS34927195 NLGN3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS34928783 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS34928857 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70
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