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rs387907328

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs387907328(-;-)
Make rs387907328(-;AT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49074881
GenePRAF2, WDR45
is asnp
is mentioned by
dbSNPrs387907328
ebirs387907328
HLIrs387907328
Exacrs387907328
Varsomers387907328
Maprs387907328
PheGenIrs387907328
hapmaprs387907328
1000 genomesrs387907328
hgdprs387907328
ensemblrs387907328
gopubmedrs387907328
geneviewrs387907328
scholarrs387907328
googlers387907328
pharmgkbrs387907328
gwascentralrs387907328
openSNPrs387907328
23andMers387907328
23andMe allrs387907328
SNP Nexus

SNPshotrs387907328
SNPdbers387907328
MSV3drs387907328
GWAS Ctlgrs387907328
Max Magnitude0
ClinVar
Risk rs387907328(;)
Alt rs387907328(;)
Reference rs387907328(AT;AT)
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.48932540_48932541delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000034828.11,