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
RS145031754 ASRGL1 Health Risk Conflicting classifications of pathogenicity —
RS145032037 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1450324476 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS145032876 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS145033147 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS145033378 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, TGFBR1-related disorder
RS145033594 KRT85 Health Risk Conflicting classifications of pathogenicity —
RS1450337857 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS145033890 CDCA8 Health Risk Conflicting classifications of pathogenicity Neutrophil inclusion bodies, Cholangiocarcinoma
RS145034527 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, See cases
RS145034964 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8
RS1450352574 PCNT Health Risk Likely pathogenic PCNT-related disorder, PCNT-related disorder
RS145035489 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS145035679 FUT6 Health Risk Conflicting classifications of pathogenicity Fucosyltransferase 6 deficiency, Fucosyltransferase 6 deficiency
RS145035963 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS145036293 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1450363794 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 1
RS145036538 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS145036630 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145036794 FLNB Health Risk Conflicting classifications of pathogenicity Larsen syndrome, Atelosteogenesis type III
RS145037203 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS145038571 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS145038693 INS Health Risk Likely pathogenic Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus
RS1450389945 RLBP1 Health Risk Pathogenic —
RS145039072 TARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS1450394308 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS145039828 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS145039979 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS145040227 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS145040305 P4HB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145040593 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS145040665 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS145041032 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hereditary spherocytosis type 4
RS1450419928 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS145042175 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS145042327 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1450426641 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, 7 conditions
RS145043229 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1450434935 SCN5A Health Risk Pathogenic/Likely pathogenic Ventricular tachycardia, SUDDEN INFANT DEATH SYNDROME
RS145043626 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS145043679 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS145043756 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS145043837 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS145044236 OTOA Health Risk Conflicting classifications of pathogenicity —
RS1450442913 COL7A1 Health Risk Pathogenic —
RS145044365 PITX2 Health Risk Conflicting classifications of pathogenicity Cataract, Axenfeld-Rieger syndrome type 1
RS145044428 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS1450447701 MAK Health Risk Likely pathogenic MAK-related retinopathy, MAK-related retinopathy
RS145044872 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hypothermia, Congenital multicore myopathy with external ophthalmoplegia
RS145045316 DSC3 Health Risk Likely pathogenic Hereditary hypotrichosis with recurrent skin vesicles, Sarcoma
RS145045341 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, MASP1-related disorder
RS145046775 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS145047094 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS1450477596 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS145048151 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS145048208 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS145048530 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS145048666 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS145048715 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS145049015 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1450496925 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS1450498773 DNAAF4 Health Risk Pathogenic —
RS145050210 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS145050561 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS1450510914 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 5, LEOPARD syndrome 2
RS1450514987 SPTBN2 Health Risk Likely pathogenic —
RS1450517934 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS145052206 SCO2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS145052557 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS145052881 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS145053092 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1450531583 HSPG2 Health Risk Pathogenic —
RS145053404 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Iron-refractory iron deficiency anemia, Inborn genetic diseases
RS145053429 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS145054175 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS145054469 SLC4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 11 conditions
RS145054594 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS145055169 VARS2 Health Risk Conflicting classifications of pathogenicity —
RS145055719 KDF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145056129 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS145056270 AARS1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 29
RS145056278 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, ACOX1-related disorder
RS1450563045 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1450564765 ATP6V0A4 Health Risk Likely pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS1450566410 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1450567888 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1450569413 ADGRV1 Health Risk Pathogenic —
RS145057187 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS145057542 CFHR1 Health Risk Conflicting classifications of pathogenicity —
RS145057852 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS145058455 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS145058858 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS145059285 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS145060665 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS145061116 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis
RS145061343 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Intellectual disability
RS145061390 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS145062279 C2CD3 Health Risk Conflicting classifications of pathogenicity Congenital portosystemic shunt, Congenital portosystemic shunt
RS1450623027 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145062583 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
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