rs550921485, HPCA

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.
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
3 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.800 1.000 2 2015 2017
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.010 1.000 1 2017 2017
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.010 1.000 1 2017 2017