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: rs1210124629
rs1210124629
CRELD1
3 0.882 0.120 3 9944503 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1274480565
rs1274480565
TBX1
2 0.925 0.120 22 19761154 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs147232392
rs147232392
ZIC3
3 0.882 0.240 X 137566740 missense variant G/A;T snv 2.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs201398331
rs201398331
ZIC3
2 0.925 0.120 X 137566789 missense variant C/T snv 1.1E-04 3.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs367652299
rs367652299
NFATC1
3 0.882 0.120 18 79411375 missense variant C/T snv 3.3E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs542259595
rs542259595
NFATC1 ; LOC101927897
1 1.000 0.120 18 79467576 missense variant G/A;T snv 1.6E-05; 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs563944253
rs563944253
IFT88
1 1.000 0.120 13 20598654 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs62096875
rs62096875
NFATC1
3 0.882 0.120 18 79410903 missense variant G/A;T snv 7.4E-04; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs749275495
rs749275495
TBX1
3 0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018