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: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2016 2016
dbSNP: rs886042604
rs886042604
DMD
3 1.000 0.120 X 33020138 splice donor variant C/G;T snv 0.700 0
dbSNP: rs879253754
rs879253754
NKX2-5
2 1.000 5 173232792 frameshift variant T/- delins 0.700 0
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: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 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: rs863225119
rs863225119
TNNT2
5 0.882 0.080 1 201359632 missense variant T/A snv 0.010 1.000 1 2011 2011
dbSNP: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs779545541
rs779545541
GPHN
5 0.882 0.120 14 66965293 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs769402060
rs769402060
CYP1B1 ; CYP1B1-AS1
3 0.925 0.120 2 38075022 missense variant A/G snv 3.3E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs769236847
rs769236847
ASNS ; CZ1P-ASNS
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs768000961
rs768000961
CCNA2
1 4 121823490 missense variant G/A snv 8.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs764328696
rs764328696
TBX20
3 1.000 7 35248696 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs762642
rs762642
BMP4
2 1.000 0.040 14 53956335 splice region variant A/C snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 1 2015 2015
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs759067821
rs759067821
GATA4
2 1.000 0.080 8 11758294 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs758277832
rs758277832
NKX2-5
2 1.000 0.080 5 173233109 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs753669213
rs753669213
LBX2
1 2 74498109 missense variant T/C snv 1.7E-04 1.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs746503158
rs746503158
MTG1
3 1.000 0.040 10 133420125 missense variant A/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
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