rs1569547876, MAGT1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital Disorders of Glycosylation
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
38 1.000 X 77841252 stop gained G/A snv 0.700 0
Facial dysmorphism, mild
CUI: C2749206
Disease: Facial dysmorphism, mild
2 1.000 X 77841252 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 X 77841252 stop gained G/A snv 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 1.000 X 77841252 stop gained G/A snv 0.700 0