PUS10, pseudouridine synthase 10, 150962

N. diseases: 17; N. variants: 9
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: rs13003464
rs13003464
0.827 0.200 2 60959694 intron variant A/G snv 0.50
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 3 2010 2012
dbSNP: rs10188217
rs10188217
0.925 0.080 2 60990407 intron variant T/A;C snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011