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: rs5447
rs5447
GYS1
1 1.000 0.080 19 48977986 missense variant T/C snv 1.9E-02 1.4E-02 0.040 0.500 4 1997 2003