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
RS1816889095 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1816900835 CYP11B1 Health Risk Pathogenic/Likely pathogenic Glucocorticoid-remediable aldosteronism, Glucocorticoid-remediable aldosteronism
RS1816901292 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS181690344 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1816926704 CYP11B1 Health Risk Pathogenic —
RS1816943902 CYP11B1 Health Risk Pathogenic —
RS181694819 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1816948809 CYP11B1 Health Risk Pathogenic —
RS1816949224 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1816952189 CYP11B1 Health Risk Likely pathogenic —
RS181695922 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1816966972 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1816968040 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1816980417 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS181698127 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS181699780 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1817027997 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1817052708 FGFR1 Health Risk Likely pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1817058474 CYP11B1 Health Risk Pathogenic —
RS181711422 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS181711509 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1817121202 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1817122287 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1817122724 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1817123754 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS181717727 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS181719686 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS181720619 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS181726819 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS181727939 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1817280576 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS181729570 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS181729783 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
RS181731184 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS181731943 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lipase deficiency
RS1817344544 DGAT1 Health Risk Pathogenic —
RS1817352625 DGAT1 Health Risk Pathogenic/Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS181736797 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS181737266 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1817405711 TG Health Risk Pathogenic —
RS1817415840 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181743799 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS181748854 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS181749265 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS1817497939 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1817497974 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS181750463 FDFT1 Health Risk Conflicting classifications of pathogenicity FDFT1-related disorder, FDFT1-related disorder
RS1817544823 CYP11B2 Health Risk Pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS1817553996 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS1817555980 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1817559457 CYP11B2 Health Risk Pathogenic —
RS1817561200 VLDLR Health Risk Pathogenic —
RS1817574696 CYP11B2 Health Risk Pathogenic —
RS1817576999 CYP11B2 Health Risk Pathogenic —
RS1817580833 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1817583687 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS181758389 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1817584930 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1817596770 CYP11B2 Health Risk Pathogenic —
RS1817601054 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS1817612031 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS181762580 NFU1 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS1817625926 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1817626324 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1817626453 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS181762689 USH1C Health Risk Pathogenic —
RS1817657601 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1817660485 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181766682 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS181769913 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS181779633 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS1817811676 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS181782027 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS1817866954 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817867776 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817868370 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817870176 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817870237 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817871338 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817872132 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817872593 EXT1 Health Risk Pathogenic —
RS1817872999 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817873443 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817873582 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817873681 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817873963 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817874249 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817875217 EXT1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1817876107 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817876148 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817876363 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817877188 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS1817878703 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817879125 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817879250 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817879832 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817880834 EXT1 Health Risk Pathogenic —
RS1817881036 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817881221 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817881722 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
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