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: rs1556009247
rs1556009247
HDAC8
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1557962794
rs1557962794
RIT1
4 0.882 0.160 1 155910693 missense variant T/G snv 0.700 0
dbSNP: rs1563595095
rs1563595095
CHD7
10 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
dbSNP: rs1564062144
rs1564062144
HNRNPK
7 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1565307564
rs1565307564
MYRF ; TMEM258
7 0.807 0.120 11 61783599 missense variant A/G snv 0.700 0
dbSNP: rs1567053134
rs1567053134
CYP11A1
8 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
10 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
dbSNP: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs367557471
rs367557471
CHD7
4 1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs398123278
rs398123278
MMUT
4 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
dbSNP: rs879253754
rs879253754
NKX2-5
2 1.000 5 173232792 frameshift variant T/- delins 0.700 0
dbSNP: rs886042604
rs886042604
DMD
3 1.000 0.120 X 33020138 splice donor variant C/G;T snv 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs16835979
rs16835979
STX18-AS1
6 0.851 0.120 4 4633549 intron variant C/A snv 0.20 0.030 1.000 3 2014 2016
dbSNP: rs6824295
rs6824295
STX18-AS1
6 0.851 0.120 4 4612553 intron variant C/T snv 0.20 0.030 1.000 3 2014 2016
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.020 1.000 2 2016 2019
dbSNP: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.020 1.000 2 2015 2016
dbSNP: rs104893900
rs104893900
NKX2-5
2 1.000 5 173233011 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs104893907
rs104893907
NKX2-5
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894073
rs104894073
GATA4
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019