Gene: FKRP ×
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: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.730 1.000 24 2001 2018
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs543163491
rs543163491
FKRP
6 0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06 0.010 1.000 1 2018 2018