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: rs1457591395
rs1457591395
WWP1
1 1.000 0.120 8 86427804 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs369758958
rs369758958
OBSCN
1 1.000 0.120 1 228316753 missense variant C/T snv 3.3E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs376510500
rs376510500
TGM2
1 1.000 0.120 20 38156054 missense variant G/A snv 2.4E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs72554656
rs72554656
ATP7A ; PGK1
1 1.000 0.120 X 78042645 stop gained C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs747064211
rs747064211
PRKN
1 1.000 0.120 6 161350178 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs760251358
rs760251358
DMD
1 1.000 0.120 X 31209642 missense variant T/C snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs975757101
rs975757101
ANO5
1 1.000 0.120 11 22226034 synonymous variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1553264624
rs1553264624
LMNA
1 1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del 0.700 0
dbSNP: rs1553265369
rs1553265369
LMNA
1 1.000 0.120 1 156134954 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1553265433
rs1553265433
LMNA
1 1.000 0.120 1 156135208 missense variant G/C snv 0.700 0
dbSNP: rs1553265436
rs1553265436
LMNA
1 1.000 0.120 1 156135214 inframe deletion GAACAG/- delins 0.700 0
dbSNP: rs1553265761
rs1553265761
LMNA
1 1.000 0.120 1 156136111 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1557058294
rs1557058294
DMD
1 1.000 0.120 X 32823294 splice donor variant C/T snv 0.700 0
dbSNP: rs267607644
rs267607644
LMNA
1 1.000 0.120 1 156115022 missense variant T/C snv 0.700 0
dbSNP: rs34997054
rs34997054
DYSF
1 1.000 0.120 2 71511847 missense variant G/A snv 7.1E-03 4.1E-03 0.700 0
dbSNP: rs755660222
rs755660222
POMT2
1 1.000 0.120 14 77301228 frameshift variant C/- delins 1.2E-05 0.700 0
dbSNP: rs769561386
rs769561386
LMNA
1 1.000 0.120 1 156138575 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs780302064
rs780302064
LMNA
1 1.000 0.120 1 156137212 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs797045898
rs797045898
POMT2
1 1.000 0.120 14 77283874 splice acceptor variant CTAGG/TCA delins 0.700 0
dbSNP: rs548397345
rs548397345
SMCHD1
2 0.925 0.120 18 2724901 missense variant G/A;C;T snv 4.9E-06; 4.9E-06; 4.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs57207746
rs57207746
LMNA
2 0.925 0.120 1 156134860 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1553555585
rs1553555585
DYSF
2 0.925 0.120 2 71570335 splice donor variant G/T snv 0.700 0
dbSNP: rs1556962271
rs1556962271
DMD
2 0.925 0.120 X 31875197 frameshift variant -/AATG delins 0.700 0
dbSNP: rs1557396600
rs1557396600
DMD
2 0.925 0.120 X 32518006 splice donor variant A/C snv 0.700 0
dbSNP: rs267607576
rs267607576
LMNA
2 0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05 0.700 0