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rs387907332

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907332(C;T)
Make rs387907332(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49075636
GenePRAF2, WDR45
is asnp
is mentioned by
dbSNPrs387907332
ebirs387907332
HLIrs387907332
Exacrs387907332
Varsomers387907332
Maprs387907332
PheGenIrs387907332
hapmaprs387907332
1000 genomesrs387907332
hgdprs387907332
ensemblrs387907332
gopubmedrs387907332
geneviewrs387907332
scholarrs387907332
googlers387907332
pharmgkbrs387907332
gwascentralrs387907332
openSNPrs387907332
23andMers387907332
23andMe allrs387907332
SNP Nexus

SNPshotrs387907332
SNPdbers387907332
MSV3drs387907332
GWAS Ctlgrs387907332
Max Magnitude0
ClinVar
Risk rs387907332(T;T)
Alt rs387907332(T;T)
Reference rs387907332(C;C)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 5
Variation info
Gene WDR45 PRAF2
CLNDBN Neurodegeneration with brain iron accumulation 5
Reversed 1
HGVS NC_000023.10:g.48933295G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034832.3,