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
RS145900712 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145901144 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS145901197 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS145901607 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS145901904 KCNJ5 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1459022689 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1459023925 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS145903082 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145903120 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS1459031771 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS145903608 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1459036159 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS145905497 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, TBK1-related disorder
RS145906084 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145906298 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS145906459 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS145906530 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS145906668 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS145906942 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145907585 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Sarcotubular myopathy
RS145907618 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1459077847 NANS Health Risk Pathogenic —
RS145908212 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Schimke immuno-osseous dysplasia
RS145909413 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS145910245 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS145910377 NALCN Health Risk Conflicting classifications of pathogenicity —
RS145910735 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS1459110114 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1459123494 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS145912433 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS145912662 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS145913500 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2
RS1459136471 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1459137122 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS145913750 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Hearing loss
RS1459143051 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1459144096 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS1459151671 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1459158279 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS145916504 SLC16A1 Health Risk Conflicting classifications of pathogenicity Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS1459166839 NALCN Health Risk Pathogenic Hypotonia, infantile
RS145918825 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS145919543 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, TTN-related disorder
RS145920072 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS145922241 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1459222478 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS145922845 IL10 Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease, Rheumatoid arthritis
RS145922879 TUBB1 Health Risk Conflicting classifications of pathogenicity TUBB1-related disorder, Macrothrombocytopenia
RS145923602 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS145924695 PTCH1 Health Risk Conflicting classifications of pathogenicity Congenital heart disease, Gorlin syndrome
RS1459252796 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS145925666 MAGI2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 15, Nephrotic syndrome 15
RS145926679 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS1459266876 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1459270286 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1459273753 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS145928221 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1459288402 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS145929061 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1459290952 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GRIN2D-related disorder
RS145929269 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1459299108 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1459304265 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1459313694 PLVAP Health Risk Pathogenic —
RS145931742 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1459317703 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1459322761 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS145932311 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, 6 conditions
RS1459326742 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS145933612 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa
RS1459339879 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS145935225 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS145936354 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS145936761 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS1459369528 BCOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Oculofaciocardiodental syndrome
RS1459374430 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Seizures
RS1459378570 BCS1L Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1
RS145938212 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS1459382670 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS1459384589 SPTB Health Risk Likely pathogenic —
RS145938865 VAC14 Health Risk Conflicting classifications of pathogenicity Striatonigral degeneration, childhood-onset
RS145939072 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Joubert syndrome 16
RS145939211 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS1459392243 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS145939391 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS145939548 DCHS1 Health Risk Conflicting classifications of pathogenicity DCHS1-related disorder, Familial cancer of breast
RS145939718 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145940009 DDOST Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type Ir, DDOST-related disorder
RS145940356 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS145940742 ASCC1 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy with congenital bone fractures 2, ASCC1-related disorder
RS1459422877 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS145942328 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Acute aortic dissection
RS1459437890 PET100 Health Risk Conflicting classifications of pathogenicity Abnormality of the mitochondrion, Mitochondrial complex IV deficiency
RS145944049 ALX1 Health Risk Conflicting classifications of pathogenicity ALX1-related disorder, ALX1-related disorder
RS1459441231 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1459452503 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS1459460059 ANO6 Health Risk Conflicting classifications of pathogenicity ANO6-related disorder, ANO6-related disorder
RS145946587 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS145946864 ARSL Health Risk Conflicting classifications of pathogenicity X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS145946881 MCM6 Health Risk association LACTASE PERSISTENCE, LACTASE PERSISTENCE
« Prev 1 ... 637 638 639 640 641 642 643 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →