rs797046101, WDR45

N. diseases: 5
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.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
28 0.851 0.280 X 49076469 stop gained G/A snv 0.700 1.000 1 2012 2012
X-linked cerebral, cerebellar, coloboma syndrome
2 0.851 0.280 X 49076469 stop gained G/A snv 0.700 1.000 1 2012 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.280 X 49076469 stop gained G/A snv 0.010 1.000 1 2015 2015
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
9 0.851 0.280 X 49076469 stop gained G/A snv 0.010 1.000 1 2015 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.280 X 49076469 stop gained G/A snv 0.010 1.000 1 2015 2015