Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033638
rs111033638
GALT
1 1.000 0.120 9 34646721 frameshift variant C/- delins 0.700 1.000 1 2005 2005