Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 4
rs387906769
GATA4
0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 3
rs387906818
GATA6
0.882 0.120 18 22181516 missense variant C/T snv 3
rs121918351
JAG1
0.882 0.240 20 10658611 missense variant C/T snv 3
rs1554034812
NIPBL
0.925 0.240 5 37058938 frameshift variant G/- delins 3
rs1569484124
ATP8 ; COX2 ; COX1 ; ATP6
0.925 0.080 MT 6925 frameshift variant C/- delins 2
rs115099192
GATA4
0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 2
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 2
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv 2
rs769531968
JAG1
0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06 2
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 2
rs1569484126
ATP6 ; COX2 ; COX1 ; ATP8
1.000 0.080 MT 6939 frameshift variant T/- delins 1
rs1569484288
ATP6 ; ND4L ; ND4 ; ND3 ; COX3
1.000 0.080 MT 9273 protein altering variant -/ATC ins 1
rs1569484122
ATP8 ; ATP6 ; COX1 ; COX2
1.000 0.080 MT 6900 frameshift variant A/- delins 1
rs1569484164
COX2 ; COX1 ; ATP6 ; ATP8 ; COX3
1.000 0.080 MT 7638 frameshift variant A/- delins 1
rs1569484120
COX2 ; COX1 ; ATP8 ; ATP6
1.000 0.080 MT 6887 inframe insertion -/GGG delins 1
rs1569484299
COX3 ; ND4 ; ND4L ; ND3 ; ATP6
1.000 0.080 MT 9429 protein altering variant -/CCC ins 1
rs1057515420
EPHB4
1.000 0.080 7 100819874 missense variant G/A snv 1
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 1
rs864321699
GATA4
1.000 0.080 8 11708337 missense variant G/A;C snv 1
rs121434424
GDF1 ; CERS1
1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04 1
rs1569484042
ND2 ; COX1 ; COX2
1.000 0.080 MT 5954 frameshift variant A/- del 1