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
RS544255284 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS544265737 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS544271988 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS544274181 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS544278158 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS544280047 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS544281438 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS544289862 COL11A1 Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS544297690 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS544300820 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
RS544303636 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS544304534 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS544310562 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS544312114 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS544312701 RNU4ATAC Health Risk Pathogenic Osteodysplastic primordial dwarfism, type 1
RS544319529 NBAS Health Risk Likely pathogenic —
RS544321475 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS544332057 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Inborn genetic diseases
RS544332856 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS544334101 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS544339193 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, King Denborough syndrome
RS544342049 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS544349538 CCDC88A Health Risk Conflicting classifications of pathogenicity —
RS544349961 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS544350167 DGUOK Health Risk Conflicting classifications of pathogenicity —
RS544351411 UFSP2 Health Risk Likely pathogenic Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability
RS544353741 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS544357242 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544365966 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS544369132 MRPS22 Health Risk Conflicting classifications of pathogenicity Hypotonia with lactic acidemia and hyperammonemia, Gastric cancer
RS544372581 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS544384907 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation
RS544392697 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS544395324 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43
RS544400795 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544407449 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS544407865 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS544409089 RAD51 Health Risk Conflicting classifications of pathogenicity —
RS544409858 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS544425912 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS544428779 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS544429954 SHANK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544435291 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS544436734 TGDS Health Risk Pathogenic/Likely pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS544436881 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS544453230 LDLR Health Risk Likely pathogenic Homozygous familial hypercholesterolemia, Hypercholesterolemia
RS544454389 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Inborn genetic diseases
RS544456463 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS544457730 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS544465774 TWIST1 Health Risk Conflicting classifications of pathogenicity Sweeney-Cox syndrome, TWIST1-related craniosynostosis
RS544471829 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS544472935 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS544474213 NLRC4 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS544489365 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS544493822 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS544500542 ABCG8 Health Risk Pathogenic/Likely pathogenic Sitosterolemia 1, ABCG8-related disorder
RS544503447 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS544503598 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS544515671 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS544518097 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS544521341 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS544530436 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS544535665 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS544539357 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS544541261 TUBGCP6 Health Risk Pathogenic —
RS544542990 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS544544409 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS544549596 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS544550330 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS544551192 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS544552151 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS544554435 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS544561079 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS544565016 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS544581532 SOX11 Health Risk Conflicting classifications of pathogenicity SOX11-related disorder, Hypogonadotropic hypogonadism
RS544588016 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, CNGA1-related retinopathy
RS544590023 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS544604053 TNXB Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, TNXB-related disorder
RS544608488 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS544616523 PANK2 Health Risk Pathogenic Cone-rod dystrophy, Pigmentary pallidal degeneration
RS544623004 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS544632177 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS544638959 DONSON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544639673 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS544640305 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS544646610 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS544654228 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS544656851 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS544657165 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 15
RS544663655 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS544668774 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS544674332 DNAH1 Health Risk Likely pathogenic Kartagener syndrome, Ciliary dyskinesia
RS544678725 C6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544688816 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS544692790 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS544693811 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS544700847 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544709413 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS544709540 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS544709673 ANK3 Health Risk Conflicting classifications of pathogenicity —
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