GPC1, glypican 1, 2817

N. diseases: 96; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2292832
rs2292832
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3828336
rs3828336
0.925 0.080 2 240451099 non coding transcript exon variant C/G;T snv 0.26
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016