rs387906726, PIGA

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 2
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
10 0.925 0.040 X 15321727 stop gained G/A snv 0.700 0
Neurodevelopmental Disorders
CUI: C1535926
Disease: Neurodevelopmental Disorders
14 0.925 0.040 X 15321727 stop gained G/A snv 0.010 1.000 1 2017 2017
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
3 0.925 0.040 X 15321727 stop gained G/A snv 0.010 1.000 1 2016 2016