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
RS1930965902 PHEX Health Risk Likely pathogenic —
RS1930967080 PHEX Health Risk Pathogenic —
RS1930968296 PHEX Health Risk Pathogenic —
RS1930970613 PHEX Health Risk Pathogenic —
RS1930971527 PHEX Health Risk Pathogenic —
RS193100167 IL13RA1 Health Risk Conflicting classifications of pathogenicity —
RS193101892 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS193112615 SDHA Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Hereditary pheochromocytoma and paraganglioma
RS193112984 ATP2A2 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Keratosis follicularis
RS1931146041 PHEX Health Risk Pathogenic —
RS1931147505 PHEX Health Risk Pathogenic —
RS1931151383 PHEX Health Risk Likely pathogenic —
RS193116983 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS193120038 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS193125030 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS193127052 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1931281945 ZNF711 Health Risk Pathogenic Intellectual disability, X-linked 97
RS193131713 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1931360759 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS193138520 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, GPSM2-related disorder
RS193141883 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS1931421939 HMOX1 Health Risk Pathogenic —
RS193142630 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS1931431411 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1931435688 CHM Health Risk Pathogenic —
RS1931438937 CHM Health Risk Pathogenic —
RS1931439989 CHM Health Risk Pathogenic —
RS1931440274 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS193145048 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS193148631 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1931516278 HMOX1 Health Risk Pathogenic —
RS1931521433 HMOX1 Health Risk Pathogenic —
RS1931525647 HMOX1 Health Risk Pathogenic Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency
RS1931531888 HMOX1 Health Risk Pathogenic Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency
RS193156676 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1931569117 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS193159707 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS1931625021 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1931625420 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS1931627432 CHM Health Risk Pathogenic —
RS1931628708 CHM Health Risk Pathogenic —
RS193163659 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS193166276 CYP11B2 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
RS193167795 LRP1 Health Risk Conflicting classifications of pathogenicity —
RS193178384 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS193181742 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS193186112 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease IIIa
RS193186244 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1D
RS193186571 CDC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS1931920527 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1931938364 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1931942632 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1931956776 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS193201363 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Renal dysplasia and retinal aplasia
RS193204571 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS193204986 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS193205940 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS1932102521 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1932104985 PHEX Health Risk Pathogenic —
RS1932109241 PHEX Health Risk Pathogenic —
RS1932109848 PHEX Health Risk Pathogenic —
RS1932110045 PHEX Health Risk Pathogenic —
RS1932110651 PHEX Health Risk Pathogenic —
RS193211556 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS1932122748 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS193212275 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1932130190 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932131665 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS1932137446 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932141204 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS1932142815 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS1932149722 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS193215070 DPM3 Health Risk Conflicting classifications of pathogenicity DPM3-congenital disorder of glycosylation, DPM3-related disorder
RS193219754 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS193222107 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS193224180 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS193224181 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS1932260742 PDGFB Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS1932278265 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932279377 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932280017 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 4C
RS193229878 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS193229946 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS193232883 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS193240706 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS193244014 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS1932452329 PI4KA Health Risk Likely pathogenic Polymicrogyria, perisylvian
RS1932460904 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932462410 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932463755 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 4C
RS1932463844 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932464388 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932464492 SOX10 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2E, SOX10-related disorder
RS1932469753 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS193247334 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1932477493 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Hypogonadism with anosmia
RS1932482365 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1932482770 POLR2F;SOX10 Health Risk Likely pathogenic —
RS193251130 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS193252082 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
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