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
RS483353079 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353081 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353082 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353085 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353086 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353090 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS483353091 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS483353092 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353093 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353095 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353099 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353100 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS483353102 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS483353103 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS483353108 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353110 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353111 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353112 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353114 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS483353115 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353118 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353119 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353122 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS483353127 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS483353128 HAND2 Health Risk Likely pathogenic —
RS483353129 TBX5 Health Risk Pathogenic —
RS4851569 IL18R1 Health Risk association Behcet disease, Behcet disease
RS4851608 SLC9A4 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS4876870 TNFRSF11B Health Risk Conflicting classifications of pathogenicity Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS4880 SOD2 Health Risk Conflicting classifications of pathogenicity; risk factor SOD2 POLYMORPHISM, Microvascular complications of diabetes
RS4884357 TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS4889500 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS4889990 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS4889991 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS4939827 SMAD7 Health Risk risk factor Colorectal cancer, susceptibility to
RS4950928 CHI3L1 Health Risk risk factor Asthma-related traits, susceptibility to
RS4959085 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS4963152 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS4963190 RNH1 Health Risk risk factor Encephalitis, acute
RS4964059 BMAL2 Health Risk association Pulmonary disease, chronic obstructive
RS497116 CASP12 Health Risk risk factor Sepsis, susceptibility to
RS4976 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS4977574 CDKN2B-AS1 Health Risk risk factor Three Vessel Coronary Disease, Three Vessel Coronary Disease
RS4981473 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS4986847 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS4986849 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS4986852 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS4986933 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS4986984 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS4987048 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS4987049 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS4987050 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS4987090 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS4987109 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS4987127 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma-pancreatic cancer syndrome, Hereditary cancer-predisposing syndrome
RS4987137 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Glaucoma 3A
RS4987188 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS4987238 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS4988008 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS4988125 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS4988235 MCM6 Health Risk association LACTASE PERSISTENCE, LACTASE PERSISTENCE
RS4988321 LRP5 Health Risk Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma, 8 conditions
RS4988345 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS4988349 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS4988352 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS4988356 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS4988460 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS4988958 IL1RL1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS4995611 NLGN4X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism
RS4998897 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS5017568 FCGR2B Health Risk Conflicting classifications of pathogenicity —
RS5017717 PROS1 Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS5029941 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS5030400 ICAM1 Health Risk Conflicting classifications of pathogenicity Malaria, susceptibility to
RS5030622 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030646 FSHB Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
RS5030648 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030651 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS5030654 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS5030730 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS5030731 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, infantile form
RS5030737 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Cystic fibrosis
RS5030764 GP9 Health Risk Pathogenic Bernard-Soulier syndrome type C, Bernard Soulier syndrome
RS5030773 LHB Health Risk Pathogenic Isolated lutropin deficiency, Isolated lutropin deficiency
RS5030776 FSHB Health Risk Pathogenic Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
RS5030777 FSHB Health Risk Pathogenic Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
RS5030802 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS5030803 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030804 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS5030805 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030807 VHL Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS5030808 VHL Health Risk Pathogenic Pheochromocytoma, Von Hippel-Lindau syndrome
RS5030809 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS5030810 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030811 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS5030812 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS5030813 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030814 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030816 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS5030817 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
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