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
RS1763530961 KDM3B Health Risk Pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1763540075 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1763559019 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1763563407 SLC12A2 Health Risk Pathogenic Hearing loss, autosomal dominant 78
RS1763590511 CTNNA1 Health Risk Conflicting classifications of pathogenicity —
RS1763594477 CTNNA1 Health Risk Pathogenic —
RS1763595481 CTNNA1 Health Risk Pathogenic/Likely pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS1763609978 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1763618466 CERT1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 34
RS1763619016 CERT1 Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1763636120 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS1763761095 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763763568 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763774140 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS17637756 GCNT2 Health Risk Conflicting classifications of pathogenicity Blood group, I system
RS1763776129 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763782834 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763785513 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763794839 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1763801693 SLC12A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, SLC12A2-related disorder
RS1763822813 REEP2 Health Risk Pathogenic Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
RS1763869544 KCNIP1 Health Risk Pathogenic Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS1763872744 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1763886479 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763893777 REEP2 Health Risk Likely pathogenic Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
RS1763927242 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1764022508 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1764024038 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1764024563 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Colorectal cancer
RS1764038673 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1764039505 FLT4 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS1764065046 GEMIN5 Health Risk Pathogenic —
RS1764094470 GEMIN5 Health Risk Likely pathogenic —
RS1764145184 SYNE1 Health Risk Pathogenic —
RS1764189332 H1-4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1764194450 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1764194669 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1764272092 CUL7 Health Risk Pathogenic/Likely pathogenic —
RS1764293109 ADGRV1 Health Risk Pathogenic —
RS1764301206 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome
RS1764409337 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1764426188 CUL7 Health Risk Pathogenic —
RS1764427494 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1764489246 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS1764493514 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, Inborn genetic diseases
RS1764526690 DNAJC21 Health Risk Likely pathogenic —
RS1764624249 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1764627724 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS1764674805 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1764675543 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1764675949 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1764693751 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1764700195 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1764702814 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1764704274 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Gastric cancer
RS1764719091 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1764730705 APC Health Risk Pathogenic Neoplasm, Neoplasm
RS1764730959 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1764733583 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1764738425 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1764766492 WDR1 Health Risk Pathogenic Lazy leukocyte syndrome, Lazy leukocyte syndrome
RS1764767232 DNAJC21 Health Risk Pathogenic —
RS1764773836 DNAJC21 Health Risk Pathogenic —
RS1764796614 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1764805365 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1764809610 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1764812018 DNAJC21 Health Risk Likely pathogenic —
RS1764826248 DNAJC21 Health Risk Pathogenic —
RS1764848840 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1764868213 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1764893772 DNAJC21 Health Risk Likely pathogenic DNAJC21-related disorder, DNAJC21-related disorder
RS1764904701 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1764920338 ADGRV1 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1764934229 EYS Health Risk Likely pathogenic —
RS1764934644 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1764936411 EYS Health Risk Pathogenic —
RS1764939836 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1764940309 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1764951663 DAAM2 Health Risk Pathogenic Nephrotic syndrome, type 24
RS1765029546 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1765058132 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1765076805 CTNNA1 Health Risk Likely pathogenic —
RS1765079997 CTNNA1 Health Risk Pathogenic —
RS1765084859 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765088338 APC Health Risk Pathogenic —
RS1765092962 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765096685 CTNNA1 Health Risk Pathogenic —
RS1765098084 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765101106 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1765118491 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765124377 DNAJC21 Health Risk Pathogenic —
RS1765131004 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
RS1765140550 SAR1B Health Risk Pathogenic —
RS1765145158 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1765151559 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765158546 DNAJC21 Health Risk Pathogenic —
RS1765163287 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765168337 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765170233 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765170817 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
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