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
RS2125323710 PPARG Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2125324202 SAG Health Risk Likely pathogenic —
RS2125325458 RARB Health Risk Likely pathogenic Microphthalmia, syndromic 12
RS2125328217 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125328350 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125328456 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125328494 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125328634 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125333406 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125334326 ARMC9 Health Risk Pathogenic —
RS2125336905 SAG Health Risk Pathogenic —
RS2125344040 SAG Health Risk Pathogenic —
RS2125347159 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS2125348371 COL4A4 Health Risk Pathogenic —
RS2125354244 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125354456 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125354507 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125357775 ATP2B2 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Neurodevelopmental disorder
RS2125368879 ATP2B2 Health Risk Pathogenic —
RS2125373730 TOP2B Health Risk Conflicting classifications of pathogenicity B-cell immunodeficiency, distal limb anomalies
RS2125376009 TOP2B Health Risk Pathogenic B-cell immunodeficiency, distal limb anomalies
RS2125377898 TOP2B Health Risk Pathogenic B-cell immunodeficiency, distal limb anomalies
RS2125377904 TOP2B Health Risk Pathogenic B-cell immunodeficiency, distal limb anomalies
RS2125380943 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2125387640 COL4A4 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS2125394967 ATP2B2 Health Risk Pathogenic —
RS2125411312 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS2125412042 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS2125423427 ITPR1 Health Risk Pathogenic —
RS2125434732 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS2125436184 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS2125436283 TGFBR2 Health Risk Likely pathogenic —
RS2125436421 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125436458 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125436704 TGFBR2 Health Risk Likely pathogenic Isolated thoracic aortic aneurysm, Familial thoracic aortic aneurysm and aortic dissection
RS2125436754 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS2125436781 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125436797 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125437095 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125438859 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125438974 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS2125438986 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125439063 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125439099 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS2125439164 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125441274 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS2125442722 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation
RS2125442838 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125442902 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS2125442981 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125446588 ARMC9 Health Risk Pathogenic —
RS2125451831 TGFBR2 Health Risk Pathogenic Malignant tumor of esophagus, Malignant tumor of esophagus
RS2125452229 TGFBR2 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125453296 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125455181 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125455193 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125455206 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS2125455285 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125455358 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS2125455385 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125455389 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125455394 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2125455747 SPP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2125459623 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125459806 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125459914 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125460077 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125463133 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS2125463197 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125463278 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125463301 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125463306 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125466047 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125466937 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS2125467060 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125468772 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125468774 SPEG Health Risk Pathogenic —
RS2125468776 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125468954 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2125469313 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125469871 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125469895 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125469935 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125470125 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125470141 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS2125470527 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2125470583 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125471098 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125471177 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125471347 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125471502 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125471663 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125472041 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125472156 CRB1 Health Risk Pathogenic —
RS2125472205 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125478800 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125478810 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125478934 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125479237 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2125483466 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
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