rs879255597, NEDD4L

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.
PERIVENTRICULAR NODULAR HETEROTOPIA 7
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
4 0.882 0.080 18 58390667 missense variant G/A snv 0.800 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 18 58390667 missense variant G/A snv 0.010 1.000 1 2017 2017
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.882 0.080 18 58390667 missense variant G/A snv 0.010 1.000 1 2017 2017