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
RS2124111295 ARID1A Health Risk Pathogenic Inborn genetic diseases, Neoplasm
RS2124113674 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124114899 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2124115121 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124115285 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124118080 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124118912 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124119428 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124120509 GPC4 Health Risk Pathogenic —
RS2124120683 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124120705 GPC4 Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2124122351 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124123417 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Medulloblastoma SHH activated
RS2124125451 MACF1 Health Risk Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS2124125725 MACF1 Health Risk Pathogenic —
RS2124126066 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2124126312 RAB39B Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2124126748 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124127693 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2124130091 RAB39B Health Risk Likely pathogenic Intellectual disability, X-linked 72
RS2124131338 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124131475 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124134352 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124134359 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124134457 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Thyroid cancer
RS2124135089 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124138237 ARID1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2124140276 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124140469 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Intellectual disability
RS2124140985 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124141036 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124141140 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124142972 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124144078 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124144295 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124146053 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124146162 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124146737 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2124148856 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124148911 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124149047 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124149645 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related BAFopathy, ARID1A-related BAFopathy
RS2124151159 ARID1A Health Risk Pathogenic Septo-optic dysplasia sequence, Septo-optic dysplasia sequence
RS2124151986 ARID1A Health Risk Likely pathogenic —
RS2124152159 SLITRK2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2124152477 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2124152665 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2124154022 SHOX Health Risk Pathogenic —
RS2124154297 SHOX Health Risk Pathogenic —
RS2124154821 SHOX Health Risk Likely pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS2124163845 SLITRK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual developmental disorder
RS2124165256 SHOX Health Risk Pathogenic/Likely pathogenic —
RS2124165604 SHOX Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2124165905 SHOX Health Risk Likely pathogenic —
RS2124174443 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124174456 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124174458 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124177151 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124181878 SLITRK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual developmental disorder
RS2124183611 SHOX Health Risk Likely pathogenic —
RS2124184171 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS2124184204 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS2124184319 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS2124185586 ZIC3 Health Risk Pathogenic/Likely pathogenic Heterotaxy, visceral
RS2124185590 ZIC3 Health Risk Likely pathogenic Heterotaxy, visceral
RS2124192639 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS2124198253 PHF6 Health Risk Pathogenic —
RS2124209063 FRMD7 Health Risk Pathogenic/Likely pathogenic —
RS2124209414 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS2124212698 FRMD7 Health Risk Likely pathogenic —
RS2124221270 FRMD7 Health Risk Pathogenic —
RS2124223282 FRMD7 Health Risk Conflicting classifications of pathogenicity —
RS2124232156 BGN Health Risk Likely pathogenic Familial aortopathy, Meester-Loeys syndrome
RS2124241061 FRMD7 Health Risk Pathogenic —
RS2124241129 FRMD7 Health Risk Pathogenic —
RS2124241150 FRMD7 Health Risk Likely pathogenic —
RS2124252847 PHF6 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2124252852 PHF6 Health Risk Likely pathogenic PHF6-related disorder, PHF6-related disorder
RS2124253547 FGF13 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 90
RS2124257857 SVBP Health Risk Likely pathogenic —
RS2124279569 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS2124280474 HPRT1 Health Risk Likely pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS2124280504 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2124280518 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2124283411 EPHA2 Health Risk Pathogenic Congenital aniridia, Cataract
RS2124290355 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2124290378 HPRT1 Health Risk Likely pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2124291425 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS2124291450 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2124291470 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2124302024 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2124302051 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2124305218 HPRT1 Health Risk Likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2124305307 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2124305311 HPRT1 Health Risk Conflicting classifications of pathogenicity HPRT1-related disorder, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS2124305315 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2124330798 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2124340926 TMLHE Health Risk Likely pathogenic Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency
RS2124354095 RERE Health Risk Pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS2124355238 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
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