rs886039908, GPC3

N. diseases: 5
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.
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
12 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0