Gene: PITX2 ×
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: rs104893858
rs104893858
PITX2
5 0.827 0.080 4 110621214 missense variant T/C;G snv 8.0E-06 0.020 1.000 2 2002 2008
dbSNP: rs104893860
rs104893860
PITX2
2 0.925 0.080 4 110618542 stop gained C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121909248
rs121909248
PITX2
2 0.925 0.120 4 110621166 missense variant G/A snv 0.010 1.000 1 2002 2002