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rs864309661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGG;TGG) 0 common in clinvar
Make rs864309661(-;-)
Make rs864309661(-;TGG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position49077715
GeneWDR45
is asnp
is mentioned by
dbSNPrs864309661
dbSNP (classic)rs864309661
ClinGenrs864309661
ebirs864309661
HLIrs864309661
Exacrs864309661
Gnomadrs864309661
Varsomers864309661
LitVarrs864309661
Maprs864309661
PheGenIrs864309661
Biobankrs864309661
1000 genomesrs864309661
hgdprs864309661
ensemblrs864309661
geneviewrs864309661
scholarrs864309661
googlers864309661
pharmgkbrs864309661
gwascentralrs864309661
openSNPrs864309661
23andMers864309661
SNPshotrs864309661
SNPdbers864309661
MSV3drs864309661
GWAS Ctlgrs864309661
Max Magnitude0
ClinVar
Risk rs864309661(-;-)
Alt rs864309661(-;-)
Reference Rs864309661(TGG;TGG)
Significance Probable-Pathogenic
Disease Neurodegeneration with brain iron accumulation 5
Variation info
Gene WDR45
CLNDBN Neurodegeneration with brain iron accumulation 5
Reversed 1
HGVS NC_000023.10:g.48935374_48935376delCCA
CLNSRC
CLNACC RCV000203242.1,