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: rs28937903
rs28937903
FKRP
3 0.882 0.160 19 46756814 missense variant C/A;T snv 4.5E-06 0.710 1.000 6 2001 2008