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: rs121918351
rs121918351
JAG1
3 0.882 0.240 20 10658611 missense variant C/T snv 0.700 0
dbSNP: rs1445910672
rs1445910672
TBX1
1 1.000 0.080 22 19761255 stop gained G/A;T snv 0.700 0
dbSNP: rs1554034812
rs1554034812
NIPBL
3 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0
dbSNP: rs1556165162
rs1556165162
HDAC8
7 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
dbSNP: rs1569484042
rs1569484042
COX1 ; COX2 ; ND2
1 1.000 0.080 MT 5954 frameshift variant A/- del 0.700 0
dbSNP: rs1569484120
rs1569484120
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6887 inframe insertion -/GGG delins 0.700 0
dbSNP: rs1569484122
rs1569484122
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6900 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
2 0.925 0.080 MT 6925 frameshift variant C/- delins 0.700 0
dbSNP: rs1569484126
rs1569484126
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6939 frameshift variant T/- delins 0.700 0
dbSNP: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7638 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484288
rs1569484288
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9273 protein altering variant -/ATC ins 0.700 0
dbSNP: rs1569484299
rs1569484299
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9429 protein altering variant -/CCC ins 0.700 0
dbSNP: rs1569484301
rs1569484301
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9441 inframe insertion -/TTT delins 0.700 0
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
4 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.800 0
dbSNP: rs201442000
rs201442000
NKX2-5
2 0.925 0.080 5 173235019 missense variant T/C;G snv 1.3E-04; 4.1E-06 0.700 0
dbSNP: rs28374544
rs28374544
ZFPM2 ; ZFPM2-AS1
1 1.000 0.080 8 105802051 missense variant A/G snv 1.1E-02 4.4E-02 0.700 0
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs864321699
rs864321699
GATA4
2 1.000 0.080 8 11708337 missense variant G/A;C snv 0.700 0
dbSNP: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
dbSNP: rs104893902
rs104893902
NKX2-5
2 0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 0.700 1.000 3 1999 2003
dbSNP: rs104893904
rs104893904
NKX2-5
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.700 1.000 3 1999 2003
dbSNP: rs104893905
rs104893905
NKX2-5
2 0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 0.800 1.000 3 1999 2003
dbSNP: rs2228638
rs2228638
NRP1
3 1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 0.820 1.000 3 2013 2018
dbSNP: rs387906816
rs387906816
GATA6
4 0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04 0.720 1.000 3 2010 2014