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 0.710 1.000 11 2001 2018
dbSNP: rs149682171
rs149682171
POMT1
3 0.882 0.120 9 131522113 missense variant C/T snv 6.0E-05 2.8E-05 0.710 1.000 1 2014 2014
dbSNP: rs28937903
rs28937903
FKRP
3 0.882 0.160 19 46756814 missense variant C/A;T snv 4.5E-06 0.700 1.000 7 2004 2014
dbSNP: rs398124245
rs398124245
POMT1
4 0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04 0.700 1.000 6 2002 2014
dbSNP: rs770711331
rs770711331
FKRP
2 0.925 0.160 19 46755716 missense variant C/T snv 1.5E-05 0.700 1.000 6 2005 2009
dbSNP: rs104894692
rs104894692
FKRP
3 0.882 0.160 19 46756369 missense variant T/A snv 6.3E-06 1.4E-05 0.700 1.000 5 2003 2008
dbSNP: rs119462987
rs119462987
POMT1
3 0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05 0.700 1.000 5 2006 2012
dbSNP: rs398123555
rs398123555
FKTN
3 0.882 0.160 9 105620050 frameshift variant A/-;AA delins 0.700 1.000 5 2007 2016
dbSNP: rs750176716
rs750176716
FKTN
2 0.925 0.120 9 105619989 frameshift variant T/- delins 2.0E-05 0.700 1.000 5 2007 2016
dbSNP: rs754403441
rs754403441
FKRP
2 0.925 0.160 19 46756586 frameshift variant G/-;GG delins 0.700 1.000 5 2001 2015
dbSNP: rs766648827
rs766648827
POMT1
3 0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2012
dbSNP: rs104894680
rs104894680
FKRP
2 1.000 0.120 19 46756604 stop gained C/A;G;T snv 4.1E-06; 1.7E-04 0.700 1.000 4 2001 2004
dbSNP: rs119463990
rs119463990
FKTN
2 0.925 0.120 9 105596631 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 4 1998 2015
dbSNP: rs1555738103
rs1555738103
FKRP
1 1.000 0.120 19 46755588 frameshift variant C/- delins 0.700 1.000 4 2001 2012
dbSNP: rs1568419860
rs1568419860
FKRP
1 1.000 0.120 19 46756525 frameshift variant -/GG delins 0.700 1.000 4 2005 2017
dbSNP: rs563033008
rs563033008
FKRP
2 0.925 0.160 19 46756348 missense variant G/A snv 3.2E-05 3.1E-04 0.700 1.000 4 2003 2017
dbSNP: rs104894691
rs104894691
FKRP
2 0.925 0.160 19 46756349 missense variant T/C snv 6.4E-06 4.2E-05 0.700 1.000 3 2003 2014
dbSNP: rs119464998
rs119464998
FKTN
2 0.925 0.120 9 105620001 missense variant A/G snv 2.8E-05 2.1E-05 0.700 1.000 3 2001 2012
dbSNP: rs1453773610
rs1453773610
POMT1
3 0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
3 0.882 0.120 9 131515524 splice donor variant T/C snv 0.700 1.000 3 2002 2006
dbSNP: rs1247934219
rs1247934219
FKRP
1 1.000 0.120 19 46756273 missense variant C/T snv 1.7E-05 0.700 1.000 2 2007 2013
dbSNP: rs1564364615
rs1564364615
POMT1
3 0.882 0.120 9 131515445 frameshift variant CT/- del 0.700 1.000 2 2007 2008
dbSNP: rs200056620
rs200056620
POMT1
3 0.882 0.120 9 131513243 stop gained C/G;T snv 4.0E-06; 3.6E-05 0.700 1.000 2 2002 2016
dbSNP: rs267606814
rs267606814
FKTN
2 0.925 0.120 9 105617967 stop gained C/G;T snv 2.0E-05 0.700 1.000 2 2007 2008
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 1.000 2 2016 2018