GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Skin Abnormalities ×
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: rs80356772
rs80356772 		0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011