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: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.060 0.833 6 2011 2017
dbSNP: rs4919621
rs4919621
0.851 0.080 10 102238914 intron variant A/T snv 0.66
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.060 0.833 6 2011 2014
dbSNP: rs1013639215
rs1013639215
1.000 0.040 10 102231987 missense variant C/G;T snv 4.1E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs751473385
rs751473385
1.000 0.040 10 102231690 synonymous variant C/T snv 4.1E-06 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2012 2012