rs531630376, PCDH12

N. diseases: 4
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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
Exudative retinopathy
CUI: C0154832
Disease: Exudative retinopathy
6 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019