Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4
rs1565569158
ATN1
12 6939148 missense variant A/G snv 4
rs146017816
GATA4
1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05 2
rs1555896779
GATA5
1.000 20 62473507 missense variant G/C snv 2
rs368489876
GATA4
1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05 2
rs387906770
GATA4
1.000 8 11708439 splice acceptor variant C/A;T snv 2
rs11067075
TBX5
12 114361761 intron variant C/A snv 1.2E-03 1
rs11665469
NFATC1
18 79454468 intron variant C/T snv 0.30 1
rs1357911800
SALL4
20 51790094 missense variant T/A snv 1
rs1383180
CRMP1 ; EVC
4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 1
rs151297824
SALL4
20 51791897 missense variant G/A snv 2.8E-05 2.1E-05 1
rs1701
BAHCC1 ; MIR4740
17 81402198 non coding transcript exon variant C/A;G;T snv 1
rs2164331
DARS1
2 135910326 intron variant C/T snv 0.18 1
rs309143
DARS1
2 135956608 intron variant A/G snv 0.19 1
rs3762977
ISL1 ; LOC642366
5 51383180 non coding transcript exon variant A/G snv 0.15 1
rs540578824
GATA4
8 11708800 missense variant C/G;T snv 2.1E-05 1
rs6563
NOTCH1
9 136494732 3 prime UTR variant A/G snv 0.51 1
rs6738266
DARS1 ; DARS-AS1
2 135985602 5 prime UTR variant C/T snv 2.8E-02 2.8E-02 1
rs703752
NKX2-5
5 173232508 3 prime UTR variant C/A;G snv 1
rs754505
NFATC1 ; LOC101927897
18 79466368 intron variant G/A snv 5.6E-02 1
rs755273705
EVC
4 5729349 missense variant C/G;T snv 2.0E-05 1
rs756237060
HAND1
5 154477792 missense variant C/T snv 4.8E-06 1
rs77693245
TBX18
6 84765153 upstream gene variant G/A;T snv 1