Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908958
rs121908958
DYSF
0.851 0.160 2 71570704 missense variant G/A snv 2.0E-05 6.3E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 4 2001 2016
dbSNP: rs398123786
rs398123786
DYSF
0.925 0.120 2 71612667 frameshift variant C/-;CC delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 4 2006 2010
dbSNP: rs398123787
rs398123787
DYSF
0.925 0.120 2 71612726 missense variant G/A snv 4.0E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 4 2007 2016
dbSNP: rs1553522104
rs1553522104
DYSF
1.000 0.120 2 71516181 frameshift variant CT/- delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2008 2016
dbSNP: rs1553535902
rs1553535902
DYSF
1.000 0.120 2 71535090 splice donor variant G/A snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2007 2016
dbSNP: rs199954546
rs199954546
DYSF
1.000 0.120 2 71568339 splice donor variant G/A snv 8.0E-06 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2009 2016
dbSNP: rs28937581
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2005 2015
dbSNP: rs369607332
rs369607332
DYSF
0.925 0.120 2 71570679 stop gained C/A;T snv 1.6E-05; 2.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2005 2016
dbSNP: rs398123781
rs398123781
DYSF
0.851 0.120 2 71590212 stop gained TG/AA mnv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2004 2015
dbSNP: rs398123799
rs398123799
DYSF
0.925 0.120 2 71681032 frameshift variant -/A delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2005 2011
dbSNP: rs756328339
rs756328339
DYSF
1.000 0.120 2 71570608 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2005 2016
dbSNP: rs766433603
rs766433603
DYSF
1.000 0.120 2 71526351 splice region variant G/A;C snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2009 2016
dbSNP: rs768546511
rs768546511
DYSF
1.000 0.120 2 71520816 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2014 2016
dbSNP: rs886042389
rs886042389
DYSF
1.000 0.120 2 71526334 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2009 2015
dbSNP: rs886042584
rs886042584
DYSF
1.000 0.120 2 71669126 missense variant G/T snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 3 2010 2018
dbSNP: rs1064794020
rs1064794020
DYSF
0.925 0.120 2 71679173 stop gained C/T snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2010 2016
dbSNP: rs121908959
rs121908959
DYSF
0.851 0.120 2 71674242 stop gained C/T snv 1.2E-05 2.1E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2005 2010
dbSNP: rs1380642629
rs1380642629
DYSF
1.000 0.120 2 71598644 stop gained C/T snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2015 2017
dbSNP: rs1420930684
rs1420930684
DYSF
1.000 0.120 2 71568170 splice acceptor variant A/G snv 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2015 2016
dbSNP: rs1474151297
rs1474151297
DYSF
1.000 0.120 2 71611627 splice donor variant G/C snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2008 2009
dbSNP: rs1553376691
rs1553376691
DYSF
1.000 0.120 2 71600843 splice donor variant G/A snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2009 2014
dbSNP: rs1553422723
rs1553422723
DYSF
1.000 0.120 2 71682608 stop gained G/A snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2015 2016
dbSNP: rs1553521017
rs1553521017
DYSF
1.000 0.120 2 71513784 stop gained C/T snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2009 2016
dbSNP: rs1553522133
rs1553522133
DYSF
1.000 0.120 2 71516210 frameshift variant G/- delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2015 2017
dbSNP: rs1553522751
rs1553522751
DYSF
1.000 0.120 2 71516996 missense variant A/T snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2015 2016