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: rs2595104
rs2595104
PITX2
1 1.000 0.080 4 110631977 intron variant T/G snv 0.62 0.720 1.000 3 2016 2019
dbSNP: rs138163892
rs138163892
PITX2
2 0.925 0.080 4 110618481 missense variant T/C snv 2.8E-04 2.3E-04 0.010 1.000 1 2019 2019