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: rs28941782
rs28941782
POMT1
1 1.000 0.120 9 131506217 missense variant G/A snv 0.800 1.000 5 2002 2010
dbSNP: rs150367385
rs150367385
POMT1 ; LOC105376301
2 0.925 0.120 9 131519447 missense variant C/G snv 1.6E-03 1.1E-03 0.700 1.000 5 2002 2010
dbSNP: rs1289335417
rs1289335417
POMT1
1 1.000 0.120 9 131507400 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 4 2002 2006
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
dbSNP: rs119462981
rs119462981
POMT1
1 1.000 0.120 9 131510401 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs119463996
rs119463996
FKTN
2 0.925 0.160 9 105604372 missense variant T/C snv 0.700 0
dbSNP: rs1554754182
rs1554754182
FKTN
5 0.827 0.200 9 105606576 intron variant G/T snv 0.700 0
dbSNP: rs200198778
rs200198778
POMT2
5 0.827 0.160 14 77278764 missense variant T/C snv 5.6E-05 9.8E-05 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs398124245
rs398124245
POMT1
4 0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04 0.700 0
dbSNP: rs543163491
rs543163491
FKRP
6 0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06 0.700 0
dbSNP: rs587777817
rs587777817
POMT1
1 1.000 0.120 9 131522970 frameshift variant -/G delins 0.700 0
dbSNP: rs587777818
rs587777818
POMT1
1 1.000 0.120 9 131515444 inframe deletion CCT/- del 0.700 0
dbSNP: rs587777819
rs587777819
POMT1
3 0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06 0.700 0
dbSNP: rs587777820
rs587777820
POMT1
1 1.000 0.120 9 131507503 inframe deletion ATG/- delins 0.700 0
dbSNP: rs765230689
rs765230689
POMT1
3 0.882 0.120 9 131512044 stop gained T/A;C snv 8.0E-06 0.700 0