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: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs747900252
rs747900252
COL6A2
6 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0
dbSNP: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs121908893
rs121908893
SLC22A5
3 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs794728228
rs794728228
FBN1
4 0.925 0.160 15 48468064 stop gained G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1555358382
rs1555358382
GCH1
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs137853305
rs137853305
TPM2
7 0.851 0.120 9 35685529 missense variant G/A snv 0.030 1.000 3 2007 2010
dbSNP: rs118192170
rs118192170
RYR1
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.020 1.000 2 2001 2002
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2011
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.020 1.000 2 1996 2007
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs113994099
rs113994099
POLG
10 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs117184249
rs117184249
SYNE1
3 1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs121434589
rs121434589
MYH2 ; MYHAS
8 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121908211
rs121908211
CACNA1A
5 0.882 0.080 19 13371744 missense variant C/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1373863123
rs1373863123
ACTB
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs137853306
rs137853306
TPM2
6 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2008 2008