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: 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
dbSNP: rs373585652
rs373585652
DYSF
0.925 0.120 2 71513868 stop gained C/G;T snv 8.0E-06; 8.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2005 2010
dbSNP: rs398123767
rs398123767
DYSF
1.000 0.120 2 71535305 frameshift variant -/A delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2005 2010
dbSNP: rs398123770
rs398123770
DYSF
1.000 0.120 2 71549349 splice acceptor variant G/A snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2010 2014
dbSNP: rs398123797
rs398123797
DYSF
1.000 0.120 2 71679124 frameshift variant CAGC/- delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2010 2016
dbSNP: rs766341386
rs766341386
DYSF
0.925 0.120 2 71590281 frameshift variant TT/-;TTT delins 2.4E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2007 2009
dbSNP: rs766936914
rs766936914
DYSF
1.000 0.120 2 71528368 frameshift variant C/- delins 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2015 2016
dbSNP: rs886042110
rs886042110
DYSF
1.000 0.120 2 71661900 intron variant G/C;T snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 2 2014 2015
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: 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: rs1553376558
rs1553376558
DYSF
1.000 0.120 2 71600771 frameshift variant T/- delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2010 2010
dbSNP: rs1553415211
rs1553415211
DYSF
1.000 0.120 2 71668823 frameshift variant -/C delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2016 2016
dbSNP: rs1553531682
rs1553531682
DYSF
1.000 0.120 2 71528296 splice acceptor variant A/C snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2005 2005
dbSNP: rs1553537332
rs1553537332
DYSF
1.000 0.120 2 71539239 splice donor variant G/- delins
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2006 2006
dbSNP: rs1553542142
rs1553542142
DYSF
1.000 0.120 2 71551039 splice acceptor variant A/G snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2016 2016
dbSNP: rs199543257
rs199543257
DYSF
0.925 0.120 2 71564196 stop gained C/A;T snv 2.0E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2012 2012
dbSNP: rs202044973
rs202044973
DYSF
0.925 0.120 2 71535282 stop gained C/A;T snv 1.2E-05; 2.0E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2016 2016
dbSNP: rs398123768
rs398123768
DYSF
1.000 0.120 2 71539156 splice acceptor variant G/A snv
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2016 2016
dbSNP: rs746315830
rs746315830
DYSF
1.000 0.120 2 71503308 stop gained C/A;T snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2011 2011
dbSNP: rs766016391
rs766016391
DYSF
0.925 0.120 2 71643988 stop gained G/A snv 4.0E-06
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.700 1.000 1 2015 2015