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: rs757917335
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 8 1998 2017
dbSNP: rs750028300
rs750028300
DYSF
0.882 0.120 2 71570277 missense variant T/C snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 7 1989 2016
dbSNP: rs140108514
rs140108514
DYSF
0.851 0.120 2 71568083 splice donor variant G/A snv 1.2E-04 4.5E-04
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 6 2001 2014
dbSNP: rs398123802
rs398123802
DYSF
1.000 0.120 2 71515714 missense variant C/T snv 1.2E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 6 2011 2016
dbSNP: rs746873768
rs746873768
DYSF
0.851 0.120 2 71553092 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 6 2000 2014
dbSNP: rs150877497
rs150877497
DYSF
0.925 0.120 2 71570680 missense variant G/A;C snv 5.2E-05; 4.0E-06 1.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 5 1998 2015
dbSNP: rs398123800
rs398123800
DYSF
1.000 0.120 2 71513922 splice donor variant G/C snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 5 2012 2016
dbSNP: rs753861836
rs753861836
DYSF
1.000 0.120 2 71674190 splice region variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 5 2005 2014
dbSNP: rs766891289
rs766891289
DYSF
1.000 0.120 2 71520871 missense variant C/A;G;T snv 8.0E-06; 4.0E-06; 2.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 5 2009 2015
dbSNP: rs886039573
rs886039573
DYSF
1.000 0.120 2 71551601 splice region variant T/A snv 4.4E-06 1.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 5 2009 2016
dbSNP: rs886043900
rs886043900
DYSF
1.000 0.120 2 71553119 missense variant G/A snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 5 1998 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: rs746243052
rs746243052
DYSF
0.925 0.120 2 71667477 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 4 1998 2016
dbSNP: rs1057521141
rs1057521141
DYSF
1.000 0.120 2 71679197 missense variant C/T snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 3 1998 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: 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