Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs757917335
rs757917335
DYSF
6 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.800 1.000 21 1998 2017
dbSNP: rs121908955
rs121908955
DYSF
4 0.851 0.160 2 71682597 missense variant C/T snv 3.2E-05 2.1E-05 0.800 1.000 18 1998 2016
dbSNP: rs121908963
rs121908963
DYSF
3 0.882 0.160 2 71517028 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 18 1998 2016
dbSNP: rs150877497
rs150877497
DYSF
2 0.925 0.120 2 71570680 missense variant G/A;C snv 5.2E-05; 4.0E-06 1.4E-05 0.800 1.000 18 1998 2015
dbSNP: rs201049092
rs201049092
DYSF
2 0.925 0.160 2 71553110 missense variant G/A;C snv 8.0E-06 0.800 1.000 18 1998 2016
dbSNP: rs746243052
rs746243052
DYSF
2 0.925 0.120 2 71667477 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 17 1998 2016
dbSNP: rs886043900
rs886043900
DYSF
1 1.000 0.120 2 71553119 missense variant G/A snv 4.0E-06 0.800 1.000 17 1998 2016
dbSNP: rs1057521141
rs1057521141
DYSF
1 1.000 0.120 2 71679197 missense variant C/T snv 0.800 1.000 16 1998 2016
dbSNP: rs121908956
rs121908956
DYSF
4 0.851 0.160 2 71564074 missense variant C/A;G;T snv 0.800 1.000 14 1998 2009
dbSNP: rs121908957
rs121908957
DYSF
3 0.882 0.160 2 71481934 missense variant TG/AT mnv 0.800 1.000 14 1998 2009
dbSNP: rs121908960
rs121908960
DYSF
2 1.000 0.120 2 71553131 missense variant G/A;T snv 5.6E-05 0.800 1.000 14 1998 2009
dbSNP: rs121908961
rs121908961
DYSF
2 1.000 0.120 2 71667376 missense variant A/G snv 0.800 1.000 14 1998 2009
dbSNP: rs202218890
rs202218890
DYSF
5 0.827 0.160 2 71569884 missense variant C/T snv 4.0E-05 2.1E-05 0.800 1.000 6 2007 2016
dbSNP: rs377735262
rs377735262
DYSF
3 0.882 0.160 2 71551631 missense variant C/T snv 2.9E-05 1.4E-05 0.800 1.000 6 2009 2015
dbSNP: rs121908954
rs121908954
DYSF
2 0.925 0.160 2 71602794 missense variant A/G snv 4.6E-03 4.7E-03 0.700 1.000 14 1998 2009
dbSNP: rs1553508863
rs1553508863
DYSF
2 0.925 0.120 2 71481888 missense variant T/A snv 0.700 1.000 14 1998 2009
dbSNP: rs1553522164
rs1553522164
DYSF
1 1.000 0.120 2 71516238 missense variant T/C snv 0.700 1.000 14 1998 2009
dbSNP: rs200970855
rs200970855
DYSF
1 1.000 0.120 2 71513721 missense variant G/A;C snv 3.3E-04 0.700 1.000 14 1998 2009
dbSNP: rs34999029
rs34999029
DYSF
2 0.925 0.160 2 71513767 missense variant C/A;T snv 1.0E-02; 6.0E-05 0.700 1.000 14 1998 2009
dbSNP: rs757820496
rs757820496
DYSF
1 1.000 0.120 2 71656166 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 14 1998 2009
dbSNP: rs398123794
rs398123794
DYSF
2 0.925 0.160 2 71669191 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 7 2005 2016
dbSNP: rs750028300
rs750028300
DYSF
3 0.882 0.120 2 71570277 missense variant T/C snv 4.0E-06 0.700 1.000 7 1989 2016
dbSNP: rs140108514
rs140108514
DYSF
4 0.851 0.120 2 71568083 splice donor variant G/A snv 1.2E-04 4.5E-04 0.700 1.000 6 2001 2014
dbSNP: rs398123802
rs398123802
DYSF
1 1.000 0.120 2 71515714 missense variant C/T snv 1.2E-05 0.700 1.000 6 2011 2016
dbSNP: rs746873768
rs746873768
DYSF
4 0.851 0.120 2 71553092 stop gained C/T snv 1.2E-05 7.0E-06 0.700 1.000 6 2000 2014