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
RS368737502 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS368738607 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368739970 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS368742778 PIK3R1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
RS368743618 TUBA4A Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
RS368743921 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368744467 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368744809 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS368745985 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS368746630 INVS Health Risk Likely pathogenic INVS-related disorder, Infantile nephronophthisis
RS368746938 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS368746965 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS368747227 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS368749248 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS368750818 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS368750834 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS368751039 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS368751524 ANXA11 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 23, Inclusion body myopathy and brain white matter abnormalities
RS368755362 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS368755647 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS368759398 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368760461 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 3
RS368760651 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS368762704 GNE Health Risk Conflicting classifications of pathogenicity —
RS368763252 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368764004 MACF1 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS368765755 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS368765949 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS368767002 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS368767696 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS368767822 EP300 Health Risk Conflicting classifications of pathogenicity Menke-Hennekam syndrome 2, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS368768007 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS368770038 TTN Health Risk Conflicting classifications of pathogenicity —
RS368770647 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS368771578 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS368771780 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Macular degeneration
RS368772032 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS368773221 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS368773485 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS368775789 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS368776652 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS368776967 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS368777046 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368777580 COQ9 Health Risk Pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS368778031 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS368778231 ETHE1 Health Risk Pathogenic/Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS368778627 FLCN Health Risk Pathogenic Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS368779151 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368779193 PITPNM3 Health Risk Conflicting classifications of pathogenicity —
RS368779816 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS368780181 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368780561 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Intellectual disability
RS368781265 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS368782432 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368783057 KCND2 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS368783800 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS368783801 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS368783983 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS368785491 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS368785509 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS368785566 KCNQ4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368786036 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368787128 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia 3
RS368787826 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS368787983 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder
RS368788359 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS368788993 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome 3
RS368789902 TRRAP Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS368790049 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS368790874 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS368790885 MMUT Health Risk Likely pathogenic —
RS368791169 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS368791535 RPS10;RPS10-NUDT3 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
RS368795308 CD2AP Health Risk Likely pathogenic Focal segmental glomerulosclerosis 3, susceptibility to
RS368795536 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS368795540 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368796166 SLC3A1 Health Risk Pathogenic Cystine urolithiasis, Cystinuria
RS368796221 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS368796666 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS368796707 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS368796923 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS368797590 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS368798160 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS368798367 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS368798550 CDH23 Health Risk Pathogenic —
RS368798834 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS368800027 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368800423 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS368800587 ABCC2 Health Risk Pathogenic —
RS368801193 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS368801566 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS368802769 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS368802852 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS368803197 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS368803763 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS368803937 OPHN1 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS368804959 RECQL Health Risk Conflicting classifications of pathogenicity —
RS368805723 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS368806005 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368806892 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2C
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