rs752078407, PANK2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
42 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.700 1.000 7 2001 2016
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.010 1.000 1 2015 2015
Speech Disorders
CUI: C0037822
Disease: Speech Disorders
7 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.010 1.000 1 2015 2015