Source: UNIPROT

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: 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 14 1998 2016
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 14 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 14 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 14 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 14 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 14 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 14 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 14 1998 2015
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 14 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 14 1998 2016
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 14 1998 2017
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 14 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 0 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 0 2009 2015
dbSNP: rs121908962
rs121908962
DYSF
0.925 0.160 2 71551073 missense variant G/A snv 7.0E-06
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.710 1.000 15 1998 2009
dbSNP: rs121908955
rs121908955
DYSF
0.851 0.160 2 71682597 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 16 1998 2014
dbSNP: rs121908956
rs121908956
DYSF
0.851 0.160 2 71564074 missense variant C/A;G;T snv
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 16 1998 2014
dbSNP: rs121908957
rs121908957
DYSF
0.882 0.160 2 71481934 missense variant TG/AT mnv
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 16 1998 2014
dbSNP: rs121908958
rs121908958
DYSF
0.851 0.160 2 71570704 missense variant G/A snv 2.0E-05 6.3E-05
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 16 1998 2014
dbSNP: rs121908963
rs121908963
DYSF
0.882 0.160 2 71517028 missense variant G/A;C;T snv 4.0E-06
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 16 1998 2014
dbSNP: rs28937581
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 16 1998 2014
dbSNP: rs121908954
rs121908954
DYSF
0.925 0.160 2 71602794 missense variant A/G snv 4.6E-03 4.7E-03
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 15 1998 2009
dbSNP: rs144598063
rs144598063
DYSF
1.000 0.160 2 71570688 missense variant C/T snv 1.7E-04 1.3E-04
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 15 1998 2009
dbSNP: rs149732545
rs149732545
DYSF
1.000 0.160 2 71682676 missense variant C/T snv 1.0E-04 1.2E-04
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 15 1998 2009
dbSNP: rs150724610
rs150724610
DYSF
1.000 0.160 2 71526286 missense variant G/A;C snv 1.6E-05; 5.5E-03
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 1.000 15 1998 2009