PITX2, paired like homeodomain 2, 5308

N. diseases: 248; N. variants: 27
Disease: AL-RAQAD SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893858
rs104893858 		0.827 0.080 4 110621214 missense variant T/C;G snv 8.0E-06
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.020 1.000 2 2002 2008
dbSNP: rs104893860
rs104893860 		0.925 0.080 4 110618542 stop gained C/T snv
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.010 1.000 1 2006 2006
dbSNP: rs121909248
rs121909248 		0.925 0.120 4 110621166 missense variant G/A snv
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.010 1.000 1 2002 2002