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: rs201573646
rs201573646
MAD2L1BP
2 6 43640526 missense variant G/A snv 1.0E-04 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2005 2005
dbSNP: rs28937581
rs28937581
DYSF
9 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs369447743
rs369447743
METTL8 ; DCAF17
2 2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs397514677
rs397514677
STIM1
6 0.851 0.400 11 4023928 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs57965306
rs57965306
DES
6 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs57983345
rs57983345
LMNA
6 0.851 0.160 1 156115034 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs59962885
rs59962885
DES
11 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.710 1.000 1 2007 2007
dbSNP: rs61672878
rs61672878
LMNA
11 0.776 0.200 1 156136094 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs746673818
rs746673818
COASY
2 17 42562625 start lost G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs750174047
rs750174047
DNAH8
3 1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs75586164
rs75586164
SMN2
4 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 < 0.001 1 2014 2014
dbSNP: rs757725417
rs757725417
IMMT
3 2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs760361706
rs760361706
PPARA
4 22 46235326 missense variant G/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs761051758
rs761051758
HSPB1
7 0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06 0.010 1.000 1 2004 2004
dbSNP: rs764492939
rs764492939
COASY
2 17 42562414 start lost G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs764959600
rs764959600
PLA2G6
3 1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs772816537
rs772816537
TPM3
3 1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs794728228
rs794728228
FBN1
4 0.925 0.160 15 48468064 stop gained G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs80338957
rs80338957
SCN4A
11 0.776 0.160 17 63957427 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1057518957
rs1057518957
CHRND
4 1.000 0.040 2 232535143 missense variant G/T snv 0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0