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: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.800 1.000 6 2001 2010
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
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.710 1.000 1 2001 2001
dbSNP: rs104894679
rs104894679
FKRP
2 1.000 0.120 19 46756376 missense variant A/G snv 6.3E-06 0.700 1.000 5 2001 2007
dbSNP: rs121908110
rs121908110
FKRP
4 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 1.000 5 2001 2007
dbSNP: rs1555739117
rs1555739117
FKRP
1 1.000 0.120 19 46756651 missense variant G/A snv 0.700 1.000 5 2001 2007
dbSNP: rs28937902
rs28937902
FKRP
1 1.000 0.120 19 46756113 missense variant C/A snv 0.700 1.000 5 2001 2007
dbSNP: rs28937904
rs28937904
FKRP
1 1.000 0.120 19 46756663 missense variant G/A;T snv 4.0E-06 0.700 1.000 5 2001 2007
dbSNP: rs1057520772
rs1057520772
FKRP
1 1.000 0.120 19 46756844 missense variant A/C snv 0.700 0
dbSNP: rs143793528
rs143793528
FKRP
1 1.000 0.120 19 46755791 missense variant C/G snv 1.0E-02 9.0E-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: rs752582904
rs752582904
FKRP
2 0.925 0.120 19 46756397 missense variant C/G snv 6.0E-06 7.0E-06 0.700 0