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
RS377431744 VPS33B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377431904 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS377431946 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS377432140 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS377432261 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS377432411 IARS2 Health Risk Conflicting classifications of pathogenicity —
RS377433038 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS377435737 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377437226 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS377437879 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS377437961 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Inborn genetic diseases
RS377438913 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS377438959 TACO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377439232 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377439315 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377439942 DSC2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS377440297 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS377441190 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377443153 FZD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377443184 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS377443637 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS377444313 ASPM Health Risk Conflicting classifications of pathogenicity —
RS377444977 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related disorder
RS377445018 B4GALNT1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS377445081 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS377446096 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS377446423 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS377446507 FAM13A Health Risk Conflicting classifications of pathogenicity Squamous cell carcinoma, Squamous cell carcinoma
RS377447090 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377447726 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS377448015 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS377451586 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS377452683 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS377452989 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS377453143 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS377454040 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS377454829 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS377454880 QARS1 Health Risk Conflicting classifications of pathogenicity —
RS377454931 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377455608 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS377456488 XYLT2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, XYLT2-related disorder
RS377456965 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS377457276 GNRHR Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, Inborn genetic diseases
RS377457393 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS377459479 MRPS22 Health Risk Conflicting classifications of pathogenicity Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS377459546 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS377459815 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS377461013 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS377461417 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS377461469 TPRN Health Risk Conflicting classifications of pathogenicity —
RS377461506 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS377461656 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS377461670 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS377461918 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS377462059 SBF1 Health Risk Conflicting classifications of pathogenicity SBF1-related disorder, SBF1-related disorder
RS377463031 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS377463473 KDM3B Health Risk Pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS377463653 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS377464119 LAMB4 Health Risk Conflicting classifications of pathogenicity —
RS377465289 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS377467259 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS377467465 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS377467999 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS377468280 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS377468788 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS377468919 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary breast ovarian cancer syndrome
RS377469966 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS377470390 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS377470679 L1CAM Health Risk Pathogenic —
RS377471712 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS377473850 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS377474103 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS377474357 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS377474761 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS377475657 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS377475866 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS377476081 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS377476335 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus
RS377476546 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377477287 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS377479583 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Cervical cancer
RS377479985 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377480086 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377480200 RTTN Health Risk Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS377480457 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS377480477 STRC Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
RS377480514 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS377483407 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS377484262 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS377484398 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377484697 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS377485215 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Inborn genetic diseases
RS377485395 MEGF8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377486490 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377486858 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS377486978 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS377487468 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS377488010 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS377489011 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377491955 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
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