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
RS41311339 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS41311778 TBXAS1 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS41312094 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS41312157 ZNF81 Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Gastric cancer
RS41312419 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Ventricular fibrillation
RS41312433 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS41312672 TSHB Health Risk Conflicting classifications of pathogenicity Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
RS41313033 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sick sinus syndrome 1
RS41313086 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS41313301 FKTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Walker-Warburg congenital muscular dystrophy
RS41313351 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS41313667 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Sick sinus syndrome 1
RS41313840 CTNNA3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 13
RS41313880 LMNA Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Primary dilated cardiomyopathy
RS41313912 INAVA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 29, Inflammatory bowel disease 29
RS41313932 HAX1 Health Risk Pathogenic/Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS41313948 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS41313952 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS41314033 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, LMNA-related disorder
RS41314035 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia with type A lipodystrophy
RS41314534 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS41315020 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS41315044 MIPEP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS41315351 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
RS41315493 SCN5A Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, Long QT syndrome 2
RS41315511 KCNE2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS41315858 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS41316695 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS41316996 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, DBH-related disorder
RS41317142 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS41317144 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS41317351 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS41317461 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS41317503 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS41317525 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS41317833 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder
RS41319046 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS41321052 HBA2 Health Risk Conflicting classifications of pathogenicity Heinz body anemia, Erythrocytosis
RS41321345 HBA2 Health Risk Pathogenic/Likely pathogenic HEMOGLOBIN KOYA DORA, alpha Thalassemia
RS41323248 HBA2 Health Risk Pathogenic/Likely pathogenic HEMOGLOBIN DARTMOUTH, alpha Thalassemia
RS41323746 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related lung cancer
RS4132601 IKZF1 Health Risk association Leukemia, acute lymphocytic
RS41328049 HBA2 Health Risk Likely pathogenic HEMOGLOBIN ZURICH ALBISRIEDEN, Alpha-thalassemia
RS41331747 HBA2 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN INKSTER, Erythrocytosis
RS41341344 HBA2 Health Risk Pathogenic HEMOGLOBIN AGRINIO, Hemoglobin H disease
RS41341748 MSR1 Health Risk Conflicting classifications of pathogenicity Prostate cancer, Hereditary cancer-predisposing syndrome
RS4135010 CDC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS41352749 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Leprechaunism syndrome
RS41361546 HBA2 Health Risk Pathogenic; other HEMOGLOBIN HANAMAKI, Erythrocytosis
RS41364652 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS41370446 FLG Health Risk Pathogenic —
RS41380347 MCM6 Health Risk association LACTASE PERSISTENCE, LACTASE PERSISTENCE
RS41396346 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS41397847 HBA2 Health Risk Pathogenic Hemoglobin Quong Sze, alpha Thalassemia
RS41407250 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN I (PHILADELPHIA), HEMOGLOBIN I (TEXAS)
RS41412046 HBA2 Health Risk Pathogenic Hemoglobin H disease, nondeletional
RS41415646 PPARG Health Risk Conflicting classifications of pathogenicity PPARG-related familial partial lipodystrophy, Obesity
RS414171 CISH Health Risk risk factor Tuberculosis, susceptibility to
RS41417548 HBA2 Health Risk Pathogenic/Likely pathogenic HEMOGLOBIN SALLANCHES, Hemoglobin H disease
RS41419545 FLCN Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS41428447 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS41431347 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS41441846 ITGA2 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 9, Lung cancer
RS41443947 HBB Health Risk Pathogenic Beta zero thalassemia, Beta zero thalassemia
RS41457746 HBA2 Health Risk Pathogenic Alpha-thalassemia, Dutch type
RS41459945 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS41464156 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS41464951 HBA2 Health Risk Pathogenic/Likely pathogenic Hemoglobin constant spring, Hemoglobin H disease
RS41467944 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS41468451 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder
RS41469945 HBA1;HBA2;LOC106804612 Health Risk Pathogenic Heinz body anemia, Splenomegaly
RS41473544 STAT1 Health Risk Conflicting classifications of pathogenicity Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS41474145 HBA2 Health Risk Pathogenic alpha Thalassemia, Heinz body anemia
RS41479347 HBA1;HBA2;LOC106804612 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, Heinz body anemia
RS41479844 HBA2 Health Risk Pathogenic; other HEMOGLOBIN SUAN-DOK, alpha Thalassemia
RS4148217 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS41482547 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS4148327 UGT1A1 Health Risk Conflicting classifications of pathogenicity Hyperbilirubinemia, Gilbert syndrome
RS4148353 ABCC1 Health Risk association Familial cancer of breast, Familial cancer of breast
RS4148401 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS4148626 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 3
RS4148630 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 3
RS4148631 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Diabetes mellitus
RS4148632 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS4148644 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS4148725 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS4149143 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, SLCO1B3-related disorder
RS4149197 MGST1 Health Risk association Pulmonary disease, chronic obstructive
RS4149584 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Multiple sclerosis
RS4149637 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS4150000 EXO1 Health Risk Conflicting classifications of pathogenicity EXO1-related disorder, Clear cell carcinoma of kidney
RS4150318 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS4150319 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS4151026 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS4151534 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS41515552 HBA2 Health Risk Pathogenic HBA2-related disorder, HBA2-related disorder
RS41515649 HBA2 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN EVANS, HEMOGLOBIN EVANS
RS4151648 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS41518249 HBA1;HBA2;LOC106804612 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN SAVARIA, HEMOGLOBIN SAVARIA
RS41525747 MCM6 Health Risk association LACTASE PERSISTENCE, LACTASE PERSISTENCE
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