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
RS765277720 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS765278464 PRF1 Health Risk Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS765279896 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS765281145 FITM2 Health Risk Conflicting classifications of pathogenicity Siddiqi syndrome, Siddiqi syndrome
RS765281937 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS765282250 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS765282375 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765283048 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS765284825 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS765285682 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS765287425 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS765287559 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS765287715 STX11 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS765288116 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS765289515 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS765290152 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS765290711 LRP5 Health Risk Likely pathogenic 8 conditions, LRP5-related disorder
RS765291607 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS765292152 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS765293412 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS765293859 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS765294324 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765294583 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765296153 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS765296989 PDE6C Health Risk Pathogenic Achromatopsia, Achromatopsia
RS765297527 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS765298019 RAG2 Health Risk Pathogenic Inborn error of immunity, Severe combined immunodeficiency
RS765298217 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS765298573 AIFM1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
RS765299653 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS765300713 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS765301342 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, CUBN-related disorder
RS765301554 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS765302278 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS765303299 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS765304225 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS765304898 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS765305472 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS765305996 ECEL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Arthrogryposis multiplex congenita
RS765306132 ESAM Health Risk Likely pathogenic Neurodevelopmental disorder with intracranial hemorrhage, seizures
RS76530653 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS765306552 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS765307374 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS765307463 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Inborn genetic diseases
RS765308785 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765309737 PPP5C Health Risk Conflicting classifications of pathogenicity —
RS765309844 NFU1 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 1, Inborn genetic diseases
RS765310894 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS765310938 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS765311079 SLC27A4 Health Risk Likely pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS765311365 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS765312755 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS765313977 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS765314309 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS765314472 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS765315726 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS765316175 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS765317127 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, LIG4-related disorder
RS765317927 CEP152 Health Risk Pathogenic —
RS765318603 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS765320441 MYO5A Health Risk Conflicting classifications of pathogenicity —
RS765320988 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS765322804 WFS1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Cataract 41
RS765323349 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765323914 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS765323986 TSEN54 Health Risk Likely pathogenic —
RS765324128 FREM2 Health Risk Pathogenic/Likely pathogenic Isolated cryptophthalmia, Fraser syndrome 2
RS765325621 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765325642 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Intellectual disability
RS765325777 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS765325906 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS765326959 PUS7 Health Risk Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS765327224 INPP5E Health Risk Conflicting classifications of pathogenicity Rod-cone dystrophy, Joubert syndrome
RS765327583 EPG5 Health Risk Likely pathogenic —
RS765327656 TGFB1 Health Risk Conflicting classifications of pathogenicity Diaphyseal dysplasia, Cystic fibrosis
RS765327792 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS765328255 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS765328414 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765329261 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS765330837 TCF3 Health Risk Conflicting classifications of pathogenicity —
RS765330886 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS765332596 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS765332671 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS765332910 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS765333778 BEST1 Health Risk Pathogenic/Likely pathogenic —
RS765335418 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS765335850 TAP2 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency
RS765336013 COL4A3 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal dominant Alport syndrome
RS765336852 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS765336893 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS765336896 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1
RS765338121 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS765339120 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS765339802 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS765339835 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 28
RS765340947 CAD Health Risk Pathogenic —
RS765341703 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS765342744 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS765343914 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS765344006 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
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