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: rs1462311598
rs1462311598
DMD
1 1.000 0.040 X 32390180 missense variant T/C snv 5.5E-06 0.010 1.000 1 2004 2004
dbSNP: rs587777210
rs587777210
ITGB1BP2
1 1.000 0.040 X 71305086 missense variant C/G snv 4.4E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs755559514
rs755559514
APLN
3 0.925 0.040 X 129648648 missense variant T/C;G snv 1.2E-05; 6.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs1294156190
rs1294156190
TXNRD2
1 1.000 0.040 22 19880680 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs536907995
rs536907995
CHEK2
5 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs752863555
rs752863555
TXNRD2
1 1.000 0.040 22 19919597 missense variant C/G;T snv 1.2E-05; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs754065483
rs754065483
TXNRD2
1 1.000 0.040 22 19918969 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs754916024
rs754916024
TXNRD2
1 1.000 0.040 22 19878123 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs757239766
rs757239766
TXNRD2
1 1.000 0.040 22 19880681 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.030 1.000 3 2008 2017
dbSNP: rs10880
rs10880
LTBP4
2 0.925 0.160 19 40622404 missense variant C/T snv 0.38 0.39 0.010 1.000 1 2015 2015
dbSNP: rs1384750266
rs1384750266
TNNI3
1 1.000 0.040 19 55154199 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2306969
rs2306969
FUT3 ; LOC101928844
4 0.925 0.040 19 5851790 intron variant A/G snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs267607129
rs267607129
TNNI3
2 0.925 0.040 19 55151912 missense variant G/C snv 0.010 1.000 1 2009 2009
dbSNP: rs267607130
rs267607130
TNNI3
2 0.925 0.040 19 55157052 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs535039125
rs535039125
CYP2B6
5 0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs730881071
rs730881071
TNNI3
2 1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs73920070
rs73920070
FUT3 ; LOC101928844
1 1.000 0.040 19 5851772 intron variant G/A snv 1.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs753641918
rs753641918
FHOD3
1 1.000 0.040 18 36755156 missense variant T/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 0.500 2 1997 2007
dbSNP: rs118204016
rs118204016
ACADVL ; MIR324
4 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs145579007
rs145579007
ACE
2 0.925 0.080 17 63496503 missense variant G/A snv 1.0E-04 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs149585781
rs149585781
PNMT ; TCAP
2 0.925 0.040 17 39666063 missense variant G/A snv 2.1E-04 2.1E-04 0.010 1.000 1 2004 2004
dbSNP: rs4796793
rs4796793
STAT3
16 0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 0.010 1.000 1 2012 2012