Source: CURATED ×
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: rs104893857
rs104893857
PITX2
1 1.000 0.080 4 110621255 missense variant A/T snv 0.800 1.000 5 1996 2006
dbSNP: rs104893858
rs104893858
PITX2
1 0.827 0.080 4 110621214 missense variant T/C;G snv 8.0E-06 0.800 1.000 5 1996 2006
dbSNP: rs104893859
rs104893859
PITX2
1 0.925 0.080 4 110618669 missense variant C/G;T snv 0.800 1.000 5 1996 2006
dbSNP: rs121909249
rs121909249
PITX2
1 1.000 0.080 4 110621169 missense variant C/G;T snv 4.0E-06 0.800 1.000 5 1996 2006
dbSNP: rs387906810
rs387906810
PITX2
1 0.882 0.080 4 110618679 missense variant T/C snv 0.800 1.000 5 1996 2006
dbSNP: rs1057519484
rs1057519484
PITX2
1 1.000 0.080 4 110621225 missense variant G/A snv 0.800 0
dbSNP: rs104893860
rs104893860
PITX2
1 0.925 0.080 4 110618542 stop gained C/T snv 0.700 0
dbSNP: rs1057519483
rs1057519483
PITX2
1 1.000 0.080 4 110621211 frameshift variant GTGGACATGTCCGGGTAGCGGT/- delins 0.700 0
dbSNP: rs1057519487
rs1057519487
PITX2
1 1.000 0.080 4 110618365 frameshift variant GAGCCCGGGACGCCTGTCACTG/- delins 0.700 0
dbSNP: rs1057519488
rs1057519488
PITX2
1 1.000 0.080 4 110618315 frameshift variant GA/- del 0.700 0
dbSNP: rs1057519489
rs1057519489
PITX2
1 1.000 0.080 4 110618293 stop gained A/T snv 0.700 0
dbSNP: rs1198152064
rs1198152064
PITX2
1 1.000 0.080 4 110618699 non coding transcript exon variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1553922583
rs1553922583
PITX2
3 0.882 0.120 4 110618690 splice acceptor variant T/A;C snv 0.700 0
dbSNP: rs1553922891
rs1553922891
PITX2
2 0.925 0.120 4 110621213 frameshift variant -/T delins 0.700 0
dbSNP: rs1560590094
rs1560590094
PITX2
1 1.000 0.080 4 110621159 missense variant C/G snv 0.700 0