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rs797046105

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046105(-;T)
Make rs797046105(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position49075143
GenePRAF2, WDR45
is asnp
is mentioned by
dbSNPrs797046105
dbSNP (classic)rs797046105
ClinGenrs797046105
ebirs797046105
HLIrs797046105
Exacrs797046105
Gnomadrs797046105
Varsomers797046105
LitVarrs797046105
Maprs797046105
PheGenIrs797046105
Biobankrs797046105
1000 genomesrs797046105
hgdprs797046105
ensemblrs797046105
geneviewrs797046105
scholarrs797046105
googlers797046105
pharmgkbrs797046105
gwascentralrs797046105
openSNPrs797046105
23andMers797046105
SNPshotrs797046105
SNPdbers797046105
MSV3drs797046105
GWAS Ctlgrs797046105
Max Magnitude0
ClinVar
Risk rs797046105(T;T)
Alt rs797046105(T;T)
Reference Rs797046105(-;-)
Significance Probable-Pathogenic
Disease Neurodegeneration with brain iron accululation 5
Variation info
Gene WDR45 PRAF2
CLNDBN Neurodegeneration with brain iron accululation 5
Reversed 1
HGVS NC_000023.10:g.48932802dupA
CLNSRC
CLNACC RCV000194492.1,