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rs387907330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907330(C;C)
Make rs387907330(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49075866
GenePRAF2, WDR45
is asnp
is mentioned by
dbSNPrs387907330
ebirs387907330
HLIrs387907330
Exacrs387907330
Varsomers387907330
Maprs387907330
PheGenIrs387907330
hapmaprs387907330
1000 genomesrs387907330
hgdprs387907330
ensemblrs387907330
gopubmedrs387907330
geneviewrs387907330
scholarrs387907330
googlers387907330
pharmgkbrs387907330
gwascentralrs387907330
openSNPrs387907330
23andMers387907330
23andMe allrs387907330
SNP Nexus

SNPshotrs387907330
SNPdbers387907330
MSV3drs387907330
GWAS Ctlgrs387907330
Max Magnitude0
ClinVar
Risk rs387907330(C;C)
Alt rs387907330(C;C)
Reference rs387907330(G;G)
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.48933525C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000034830.11,