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: rs121434584
rs121434584
GYS1
1 1.000 0.080 19 48974658 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs1568619900
rs1568619900
GYS1
1 1.000 0.080 19 48978123 frameshift variant T/- del 0.700 0
dbSNP: rs561646250
rs561646250
GYS1
1 1.000 0.080 19 48970958 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 8.9E-04 0.700 0
dbSNP: rs587777375
rs587777375
GYS1
1 1.000 0.080 19 48991439 frameshift variant CT/- del 6.0E-05 6.3E-05 0.700 0