Source: BEFREE ×
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: rs104894941
rs104894941
DNASE1L1 ; TAZ
1 0.925 0.120 X 154412129 stop gained C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs121908338
rs121908338
LDB3
1 1.000 0.040 10 86687073 missense variant G/A;C snv 4.5E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1420714074
rs1420714074
DMD
1 1.000 0.040 X 32491437 missense variant T/C snv 1.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs144842093
rs144842093
EMD
1 1.000 0.040 X 154381040 missense variant G/A snv 3.8E-05 3.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs145009013
rs145009013
SCN5A
1 1.000 0.040 3 38550409 missense variant A/C snv 2.4E-04 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs776656247
rs776656247
HCN4
1 1.000 0.040 15 73323661 missense variant C/A;T snv 2.2E-05; 2.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs794727065
rs794727065
DMD
1 1.000 0.040 X 32614322 missense variant C/A;T snv 1.1E-05 0.010 1.000 1 2018 2018