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rs387907331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs387907331(-;A)
Make rs387907331(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49076432
GeneWDR45
is asnp
is mentioned by
dbSNPrs387907331
dbSNP (classic)rs387907331
ClinGenrs387907331
ebirs387907331
HLIrs387907331
Exacrs387907331
Gnomadrs387907331
Varsomers387907331
LitVarrs387907331
Maprs387907331
PheGenIrs387907331
Biobankrs387907331
1000 genomesrs387907331
hgdprs387907331
ensemblrs387907331
geneviewrs387907331
scholarrs387907331
googlers387907331
pharmgkbrs387907331
gwascentralrs387907331
openSNPrs387907331
23andMers387907331
SNPshotrs387907331
SNPdbers387907331
MSV3drs387907331
GWAS Ctlgrs387907331
Max Magnitude0
ClinVar
Risk rs387907331(A;A)
Alt rs387907331(A;A)
Reference Rs387907331(-;-)
Significance 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.48934091dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000034831.5,