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: rs104894684
rs104894684
FKRP
1 1.000 19 46756403 missense variant G/A snv 0.800 1.000 1 2004 2004
dbSNP: rs104894692
rs104894692
FKRP
3 0.882 0.160 19 46756369 missense variant T/A snv 6.3E-06 1.4E-05 0.800 1.000 1 2004 2004
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs543163491
rs543163491
FKRP
6 0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06 0.700 0
dbSNP: rs587777223
rs587777223
FKRP
1 1.000 19 46755451 start lost A/G snv 0.700 0
dbSNP: rs886041004
rs886041004
FKRP
1 1.000 19 46755851 frameshift variant GG/- delins 0.700 0