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
RS377548944 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS377549138 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS377549148 C1QC Health Risk Pathogenic C1Q deficiency, C1Q deficiency
RS377549345 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS377549389 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS377549748 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS377549896 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, Gnathodiaphyseal dysplasia
RS377550239 SORL1 Health Risk Conflicting classifications of pathogenicity Early-onset dementia of unclear type, Early-onset dementia of unclear type
RS377550308 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, FBXL4-related disorder
RS377550978 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS377551589 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS377552545 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377552760 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS377553268 SLC25A1 Health Risk Conflicting classifications of pathogenicity —
RS377553546 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS377553632 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS377554134 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS377554196 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS377554392 PRKN Health Risk Pathogenic —
RS377555354 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS377555406 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS377555574 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS377555678 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS377556808 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS377557048 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS377557637 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS377557826 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS377563294 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS377563403 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377563744 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, DBH-related disorder
RS377564388 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS377565339 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS377566366 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS377566674 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS377566861 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
RS377568191 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS377568673 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS377571192 TBX4 Health Risk Conflicting classifications of pathogenicity Coxopodopatellar syndrome, Inborn genetic diseases
RS377571654 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS377572272 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS377572633 TBCE Health Risk Pathogenic —
RS377572658 TYMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377572771 PTPRQ Health Risk Pathogenic PTPRQ-related disorder, PTPRQ-related disorder
RS377572905 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS377573165 SHANK3 Health Risk Likely pathogenic Neurodegeneration, Abnormal cerebral white matter morphology
RS377573278 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377573682 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS377573993 WT1 Health Risk Conflicting classifications of pathogenicity Proteinuria, Wilms tumor 1
RS377575553 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS377575861 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS377575915 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS377575924 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Benign familial hematuria
RS377576408 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS377576796 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS377577594 DNMT3A Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Tatton-Brown-Rahman overgrowth syndrome
RS377578399 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS377578886 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377579354 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS377579620 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS377580656 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS377580992 GCDH Health Risk Pathogenic/Likely pathogenic GCDH-related disorder, Glutaric aciduria
RS377581367 SOX30 Health Risk Likely pathogenic Male infertility, Male infertility
RS377582530 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS377583144 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Lissencephaly due to LIS1 mutation, Inborn genetic diseases
RS377584163 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS377584268 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS377584386 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS377584435 IRAK4 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 67, Immunodeficiency 67
RS377584612 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS377586358 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377586515 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS377587957 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS377588214 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377589088 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS377589237 RECQL4 Health Risk Pathogenic Rothmund-Thomson syndrome, Baller-Gerold syndrome
RS377589713 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377590077 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS377590379 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS377591456 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS377591624 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS377591749 ABCB6 Health Risk Conflicting classifications of pathogenicity ABCB6-related disorder, ABCB6-related disorder
RS377592930 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS377593245 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Sarcoma
RS377593832 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377594184 KNG1 Health Risk Pathogenic High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
RS377594629 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS377594681 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS377595061 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377595194 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases
RS377595584 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS377595653 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS377595814 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS377596790 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS377597439 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS377597884 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS377597949 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS377598016 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related myopathy
RS377598226 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS377598440 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS377599569 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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