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: rs104894679
rs104894679
FKRP
2 1.000 0.120 19 46756376 missense variant A/G snv 6.3E-06 0.700 0
dbSNP: rs104894680
rs104894680
FKRP
2 1.000 0.120 19 46756604 stop gained C/A;G;T snv 4.1E-06; 1.7E-04 0.700 0
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
dbSNP: rs121908110
rs121908110
FKRP
4 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 0