rs869320686, LZTR1

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 22 20990476 missense variant G/A snv 0.700 1.000 12 2006 2017
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
14 0.882 22 20990476 missense variant G/A snv 0.700 0
NOONAN SYNDROME 10
CUI: C4225280
Disease: NOONAN SYNDROME 10
6 0.882 22 20990476 missense variant G/A snv 0.700 0
SCHWANNOMATOSIS 2
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
20 0.882 22 20990476 missense variant G/A snv 0.700 0
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
19 0.882 22 20990476 missense variant G/A snv 0.010 1.000 1 2019 2019