PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
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: rs2281983
rs2281983
0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017