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: rs132630331
rs132630331
GK
3 1.000 X 30707584 missense variant A/G snv 0.720 1.000 2 2000 2003
dbSNP: rs132630328
rs132630328
GK
3 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.710 1.000 1 1996 1996
dbSNP: rs132630329
rs132630329
GK
1 1.000 X 30720639 stop gained C/T snv 0.700 0
dbSNP: rs132630330
rs132630330
GK
1 1.000 X 30724124 missense variant T/C snv 0.700 0
dbSNP: rs587776740
rs587776740
GK
1 1.000 X 30696041 splice acceptor variant G/C snv 0.700 0