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: rs121908963
rs121908963
DYSF
0.882 0.160 2 71517028 missense variant G/A;C;T snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 6 1998 2016
dbSNP: rs201049092
rs201049092
DYSF
0.925 0.160 2 71553110 missense variant G/A;C snv 8.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 6 1998 2016
dbSNP: rs202218890
rs202218890
DYSF
0.827 0.160 2 71569884 missense variant C/T snv 4.0E-05 2.1E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 6 2007 2016
dbSNP: rs377735262
rs377735262
DYSF
0.882 0.160 2 71551631 missense variant C/T snv 2.9E-05 1.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 6 2009 2015
dbSNP: rs121908955
rs121908955
DYSF
0.851 0.160 2 71682597 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 5 1998 2016
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: 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: 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: rs121908956
rs121908956
DYSF
0.851 0.160 2 71564074 missense variant C/A;G;T snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 0 1998 2009
dbSNP: rs121908957
rs121908957
DYSF
0.882 0.160 2 71481934 missense variant TG/AT mnv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 0 1998 2009
dbSNP: rs121908960
rs121908960
DYSF
1.000 0.120 2 71553131 missense variant G/A;T snv 5.6E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 0 1998 2009
dbSNP: rs121908961
rs121908961
DYSF
1.000 0.120 2 71667376 missense variant A/G snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 0 1998 2009
dbSNP: rs398123794
rs398123794
DYSF
0.925 0.160 2 71669191 missense variant G/A 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 7 2005 2016
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: rs779987458
rs779987458
DYSF
0.925 0.160 2 71665182 missense variant G/A snv 8.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 6 2005 2016
dbSNP: rs863225021
rs863225021
DYSF
0.882 0.160 2 71665181 missense variant C/G;T snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 6 2005 2016
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