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
RS369689648 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369690199 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369691475 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS369691608 BCS1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, Sparse hair
RS369692236 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS369694921 ALG11 Health Risk Conflicting classifications of pathogenicity ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS369694967 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS369695645 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS369695848 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS369696220 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS12-related disorder
RS369696287 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369696938 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS369697366 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS369697705 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS369697947 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS369698072 NBAS Health Risk Pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS369698214 COL9A1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS369698939 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS369699167 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS369699409 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS369699627 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS369700456 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS369700898 MYO15A Health Risk Likely pathogenic —
RS369701725 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS369701764 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS369701921 CFAP58 Health Risk Pathogenic Spermatogenic failure 49, Spermatogenic failure 49
RS369702791 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369703073 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369703183 KCNJ5 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type III, Long QT syndrome
RS369704754 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Progressive familial heart block
RS369704964 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369705959 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS369707059 ASAH1 Health Risk Pathogenic/Likely pathogenic ASAH1-related disorders, ASAH1-related disorders
RS369707231 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS369707406 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS369708146 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS369708974 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369709751 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369710636 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369711772 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS369711837 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS369713081 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases
RS369713092 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS369714039 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS369714206 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369714529 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS369714894 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS369715118 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS369716125 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS369716383 GHRHR Health Risk Conflicting classifications of pathogenicity —
RS369717052 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS369717113 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS369717492 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADGRV1-related disorder
RS369717556 FLNA Health Risk Conflicting classifications of pathogenicity Abnormality of neuronal migration, Heterotopia
RS369719210 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS369719244 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS369720053 SCN3A Health Risk Likely pathogenic —
RS369720907 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS369721182 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS369721277 SLC7A14 Health Risk Conflicting classifications of pathogenicity —
RS369721476 ARMC5 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS369721525 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS369721828 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS369721947 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS369722835 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS369722854 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS369723574 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369723935 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS369723943 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS369724970 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS369725088 KMT2C Health Risk Conflicting classifications of pathogenicity KMT2C-related disorder, Kleefstra syndrome 2
RS369725513 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS369725706 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis
RS369726425 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS369726600 VPS33B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cholestasis
RS369728409 STAG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369728544 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS369729231 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369729874 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS369729930 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS369730402 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS369731124 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS369731617 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS369732062 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS369733690 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369735904 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS369736263 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS369736559 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS369737664 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS369739111 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369739594 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS369739874 CAD Health Risk Conflicting classifications of pathogenicity —
RS369739920 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS369740453 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS369741345 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS369741612 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS369742417 POLE Health Risk Pathogenic —
RS369742607 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS369742817 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS369742878 TRPM1 Health Risk Pathogenic/Likely pathogenic TRPM1-related disorder, Retinal disorder
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