rs587777186, PIGN

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.
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
20 0.925 18 62146023 missense variant A/G;T snv 0.700 1.000 2 2014 2016
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.925 18 62146023 missense variant A/G;T snv 0.010 1.000 1 2014 2014
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 18 62146023 missense variant A/G;T snv 0.010 1.000 1 2014 2014