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rs387907329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907329(C;T)
Make rs387907329(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49075573
GenePRAF2, WDR45
is asnp
is mentioned by
dbSNPrs387907329
ebirs387907329
HLIrs387907329
Exacrs387907329
Varsomers387907329
Maprs387907329
PheGenIrs387907329
hapmaprs387907329
1000 genomesrs387907329
hgdprs387907329
ensemblrs387907329
gopubmedrs387907329
geneviewrs387907329
scholarrs387907329
googlers387907329
pharmgkbrs387907329
gwascentralrs387907329
openSNPrs387907329
23andMers387907329
23andMe allrs387907329
SNP Nexus

SNPshotrs387907329
SNPdbers387907329
MSV3drs387907329
GWAS Ctlgrs387907329
Max Magnitude0
ClinVar
Risk rs387907329(A,T;A,T)
Alt rs387907329(A,T;A,T)
Reference rs387907329(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.48933232G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034829.5,