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
RS34932849 RBP3 Health Risk Conflicting classifications of pathogenicity —
RS34937014 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34937272 NRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34937870 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS34938432 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS34940368 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS34940801 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS34941422 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS34942353 UGT1A1 Health Risk Conflicting classifications of pathogenicity Lucey-Driscoll syndrome, Crigler-Najjar syndrome
RS34943572 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS34945623 HBB Health Risk Pathogenic HEMOGLOBIN MADRID, Dominant beta-thalassemia
RS34946266 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS34946978 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Conflicting classifications of pathogenicity; other Hyperbilirubinemia, Lucey-Driscoll syndrome
RS34948328 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34950075 NARS2 Health Risk Conflicting classifications of pathogenicity NARS2-related disorder, NARS2-related disorder
RS34952009 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS34957318 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS34960334 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34962745 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Oculocutaneous albinism
RS34963077 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS34966542 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS34966596 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34968276 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS34969327 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS34969656 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC6A1-related disorder
RS34972707 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS34972863 LDB3 Health Risk Conflicting classifications of pathogenicity —
RS34973695 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS34975911 HBD Health Risk Pathogenic delta Thalassemia, delta Thalassemia
RS34979623 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS34980264 HBB Health Risk Pathogenic; other HEMOGLOBIN SAINT JACQUES, Erythrocytosis
RS34982899 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS34986638 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS34987997 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS34988750 GJB2 Health Risk Conflicting classifications of pathogenicity Ichthyosis, hystrix-like
RS34989098 RTTN Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to RTTN deficiency, RTTN-related disorder
RS34993202 TIE1 Health Risk Pathogenic Lymphatic malformation 11, Lymphatic malformation 11
RS34993780 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome, type II
RS34994927 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS34995376 LRRK2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS34995577 MBD5 Health Risk Conflicting classifications of pathogenicity MBD5 associated neurodevelopmental disorder, Intellectual disability
RS34999029 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
RS34999973 HBB Health Risk Conflicting classifications of pathogenicity BETA-PLUS-THALASSEMIA, beta Thalassemia
RS35001569 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS35001900 CLEC4F Health Risk Conflicting classifications of pathogenicity —
RS35002004 GJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome
RS35002351 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS35002698 HBB Health Risk Pathogenic HEMOGLOBIN PIERRE-BENITE, Hemoglobinopathy
RS35003977 UGT1A1 Health Risk Conflicting classifications of pathogenicity; other Hyperbilirubinemia, Crigler-Najjar syndrome
RS35004053 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, NR2E3-related disorder
RS35004220 HBB Health Risk Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS35006579 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS35007621 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS35010099 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS35013643 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS35016946 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS35018134 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS35020585 HBB Health Risk Pathogenic HEMOGLOBIN ANDREW-MINNEAPOLIS, Erythrocytosis
RS35021397 CFAP43 Health Risk Conflicting classifications of pathogenicity CFAP43-related disorder, CFAP43-related disorder
RS35026927 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS35027371 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS35029074 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS35031194 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS35031397 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Monogenic diabetes
RS35031555 NOTCH3 Health Risk Conflicting classifications of pathogenicity Pulmonary arterial hypertension, Inborn genetic diseases
RS35035518 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS35040971 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS35045067 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS35045151 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS35051231 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS35051256 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS35051558 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS35051736 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS35055527 EPRS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35057005 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS35058636 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS35064500 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Multisystem inflammatory syndrome in children
RS35067717 HBB Health Risk Pathogenic; other HEMOGLOBIN HEATHROW, Erythrocytosis
RS35067805 P3H2 Health Risk Pathogenic —
RS35068180 MMP3 Health Risk risk factor Coronary heart disease, susceptibility to
RS35068278 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS35068710 RTTN Health Risk Conflicting classifications of pathogenicity RTTN-related disorder, RTTN-related disorder
RS35070204 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS35072845 P3H2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35077384 ZFYVE27 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 33, Spastic tetraparesis
RS35077871 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS35086265 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 6
RS35087111 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS35087810 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Kidney disorder
RS35088381 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS35089233 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, ABCA3-related disorder
RS35090700 CACNA1D Health Risk Conflicting classifications of pathogenicity Intellectual disability, CACNA1D-related disorder
RS35092963 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS35094910 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS35095508 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS35099082 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35099769 TEP1 Health Risk Conflicting classifications of pathogenicity —
RS35101495 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS35102652 ACAN Health Risk Conflicting classifications of pathogenicity ACAN-related disorder, Inborn genetic diseases
RS35103377 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
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