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: rs1057516051
rs1057516051
DYSF
1.000 0.120 2 71660587 frameshift variant G/- delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2016 2016
dbSNP: rs1057519132
rs1057519132
DYSF
1.000 0.120 2 71664401 frameshift variant T/- delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2013 2013
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: 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: rs1131692158
rs1131692158
DYSF
1.000 0.120 2 71669207 missense variant G/A;C snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 0
dbSNP: rs1213965862
rs1213965862
DYSF
1.000 0.120 2 71643963 splice acceptor variant A/G snv 1.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 0
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: 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: 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: 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: 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: 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: rs1236367931
rs1236367931
DYSF
1.000 0.120 2 71535283 frameshift variant -/A delins 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2016 2016
dbSNP: rs1259378167
rs1259378167
DYSF
1.000 0.120 2 71453999 start lost A/G snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 0
dbSNP: rs1278864604
rs1278864604
DYSF
0.925 0.120 2 71511922 splice donor variant G/A snv 6.4E-06 7.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 0
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: rs139258703
rs139258703
DYSF
1.000 0.120 2 71539207 stop gained C/A;G;T snv 2.8E-05; 3.2E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2006 2006
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: 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: rs1451269647
rs1451269647
DYSF
1.000 0.120 2 71682528 splice acceptor variant A/G snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 0
dbSNP: rs1456182703
rs1456182703
DYSF
1.000 0.120 2 71539223 frameshift variant T/- del
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 0
dbSNP: rs1459713589
rs1459713589
DYSF
1.000 0.120 2 71454000 start lost T/C snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 0
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