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
RS2523727054 ABCA4 Health Risk Likely pathogenic —
RS2523728931 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS2523729105 ABCA4 Health Risk Likely pathogenic —
RS2523729277 ABCA4 Health Risk Pathogenic —
RS2523729282 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523729567 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523729722 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523730625 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523730908 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523730965 SASS6 Health Risk Likely pathogenic Microcephaly 14, primary
RS2523732620 ABCA4 Health Risk Likely pathogenic —
RS2523732681 ABCA4 Health Risk Likely pathogenic —
RS2523732838 ABCA4 Health Risk Pathogenic —
RS2523733624 ABCA4 Health Risk Pathogenic —
RS2523734375 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523734498 ABCA4 Health Risk Pathogenic —
RS2523734922 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523734931 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523734936 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523735493 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523736429 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523737120 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523737446 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523737978 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523738513 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78
RS2523738693 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523741447 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523744619 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523745739 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2523746202 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS2523747340 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523747807 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523747951 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523748328 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523748367 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523748412 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523748430 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523749799 ABCA4 Health Risk Pathogenic —
RS2523750197 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523750276 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523750296 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523750373 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523750391 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523750476 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523750633 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523751567 ABCA4 Health Risk Pathogenic —
RS2523751766 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523751784 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523752501 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS2523755663 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523755672 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523755782 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523756100 CAMTA1 Health Risk Pathogenic —
RS2523757441 CAMTA1 Health Risk Pathogenic —
RS2523760441 ABCA4 Health Risk Pathogenic —
RS2523760594 ABCA4 Health Risk Pathogenic —
RS2523760621 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523760673 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523760827 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523765294 ABCA4 Health Risk Likely pathogenic —
RS2523765410 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy
RS2523768305 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523768344 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523768354 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523768384 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523768434 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523768622 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2523770658 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2523771313 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523771540 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa 19
RS2523771792 ABCA4 Health Risk Likely pathogenic —
RS2523771800 ABCA4 Health Risk Likely pathogenic —
RS2523773776 ABCA4 Health Risk Likely pathogenic —
RS2523774251 ABCA4 Health Risk Pathogenic —
RS2523774434 ABCA4 Health Risk Pathogenic —
RS2523778270 ABCA4 Health Risk Pathogenic —
RS2523780097 ABCA4 Health Risk Pathogenic —
RS2523780315 ABCA4 Health Risk Likely pathogenic —
RS2523780335 ABCA4 Health Risk Pathogenic —
RS2523780433 ABCA4 Health Risk Likely pathogenic —
RS2523788919 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2523790513 ABCA4 Health Risk Pathogenic —
RS2523790517 ABCA4 Health Risk Likely pathogenic —
RS2523791093 ABCA4 Health Risk Pathogenic —
RS2523791122 ABCA4 Health Risk Pathogenic —
RS2523791418 ABCA4 Health Risk Pathogenic —
RS2523793326 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523793339 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523794331 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523794684 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523797555 ABCA4 Health Risk Pathogenic —
RS2523797636 ABCA4 Health Risk Pathogenic —
RS2523797746 ABCA4 Health Risk Likely pathogenic —
RS2523797840 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523798097 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523798563 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523798740 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523798798 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523805141 ABCA4 Health Risk Pathogenic —
RS2523805441 ABCA4 Health Risk Pathogenic —
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