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 0.830 1.000 12 2001 2018
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 11 2001 2018
dbSNP: rs543163491
rs543163491
FKRP
6 0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06 0.800 1.000 9 2001 2018
dbSNP: rs104894691
rs104894691
FKRP
2 0.925 0.160 19 46756349 missense variant T/C snv 6.4E-06 4.2E-05 0.800 1.000 8 2001 2018
dbSNP: rs768606230
rs768606230
FKRP
1 1.000 0.120 19 46756834 missense variant C/T snv 9.0E-06 1.4E-05 0.800 1.000 8 2001 2018
dbSNP: rs28937905
rs28937905
FKRP
1 1.000 0.120 19 46755610 missense variant C/G;T snv 8.6E-06; 4.3E-06 0.800 1.000 6 2001 2018
dbSNP: rs398124395
rs398124395
FKRP
1 1.000 0.120 19 46756391 missense variant C/A;T snv 6.1E-06 0.800 1.000 1 2010 2010
dbSNP: rs28937903
rs28937903
FKRP
3 0.882 0.160 19 46756814 missense variant C/A;T snv 4.5E-06 0.700 1.000 8 2004 2017
dbSNP: rs104894683
rs104894683
FKRP
1 1.000 0.120 19 46755685 missense variant G/A snv 1.0E-03 4.3E-03 0.700 1.000 6 2001 2018
dbSNP: rs104894690
rs104894690
FKRP
1 1.000 0.120 19 46755850 missense variant C/T snv 0.700 1.000 6 2001 2018
dbSNP: rs143031195
rs143031195
FKRP
1 1.000 0.120 19 46756523 missense variant C/T snv 1.4E-04 1.0E-04 0.700 1.000 6 2001 2018
dbSNP: rs1450841129
rs1450841129
FKRP
1 1.000 0.120 19 46756466 missense variant G/A;C;T snv 5.2E-06 0.700 1.000 6 2001 2018
dbSNP: rs28937901
rs28937901
FKRP
1 1.000 0.120 19 46756396 missense variant C/A;T snv 6.0E-06 0.700 1.000 6 2001 2018
dbSNP: rs765885747
rs765885747
FKRP
1 1.000 0.120 19 46756378 stop gained G/C;T snv 4.4E-05; 2.5E-05 0.700 1.000 4 2003 2013
dbSNP: rs770711331
rs770711331
FKRP
2 0.925 0.160 19 46755716 missense variant C/T snv 1.5E-05 0.700 1.000 4 2006 2009
dbSNP: rs748087383
rs748087383
FKRP
1 1.000 0.120 19 46756617 frameshift variant CG/- delins 8.2E-06 0.700 1.000 3 2005 2017
dbSNP: rs1301397800
rs1301397800
FKRP
1 1.000 0.120 19 46756883 missense variant T/C snv 4.1E-06 7.0E-06 0.700 1.000 2 2008 2009
dbSNP: rs886042506
rs886042506
FKRP
2 0.925 0.160 19 46755610 frameshift variant -/GGAG delins 0.700 1.000 2 2001 2008
dbSNP: rs1191737604
rs1191737604
FKRP
1 1.000 0.120 19 46756004 frameshift variant C/-;CC delins 0.700 1.000 1 2013 2013
dbSNP: rs1555738823
rs1555738823
FKRP
1 1.000 0.120 19 46756309 frameshift variant TTCGGCTGCAA/- del 0.700 1.000 1 2016 2016
dbSNP: rs1555739333
rs1555739333
FKRP
1 1.000 0.120 19 46756925 frameshift variant C/- del 0.700 1.000 1 2004 2004
dbSNP: rs754403441
rs754403441
FKRP
2 0.925 0.160 19 46756586 frameshift variant G/-;GG delins 0.700 1.000 1 2015 2015
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
dbSNP: rs104894682
rs104894682
FKRP
2 0.925 0.160 19 46756936 stop lost T/A snv 8.1E-06 1.4E-05 0.700 0
dbSNP: rs104894689
rs104894689
FKRP
1 1.000 0.120 19 46756214 stop gained G/A snv 0.700 0