GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Weber-Cockayne Syndrome ×
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: rs762236241
rs762236241 		0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2002