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rs869312661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312661(A;A)
Make rs869312661(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position49075135
GenePRAF2, WDR45
is asnp
is mentioned by
dbSNPrs869312661
dbSNP (classic)rs869312661
ClinGenrs869312661
ebirs869312661
HLIrs869312661
Exacrs869312661
Gnomadrs869312661
Varsomers869312661
LitVarrs869312661
Maprs869312661
PheGenIrs869312661
Biobankrs869312661
1000 genomesrs869312661
hgdprs869312661
ensemblrs869312661
geneviewrs869312661
scholarrs869312661
googlers869312661
pharmgkbrs869312661
gwascentralrs869312661
openSNPrs869312661
23andMers869312661
SNPshotrs869312661
SNPdbers869312661
MSV3drs869312661
GWAS Ctlgrs869312661
Max Magnitude0
ClinVar
Risk rs869312661(A;A)
Alt rs869312661(A;A)
Reference Rs869312661(G;G)
Significance Probable-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.48932794C>T
CLNSRC
CLNACC RCV000209935.1,