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rs797046100

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797046100(A;G)
Make rs797046100(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position49074856
GenePRAF2, WDR45
is asnp
is mentioned by
dbSNPrs797046100
ebirs797046100
HLIrs797046100
Exacrs797046100
Varsomers797046100
Maprs797046100
PheGenIrs797046100
hapmaprs797046100
1000 genomesrs797046100
hgdprs797046100
ensemblrs797046100
gopubmedrs797046100
geneviewrs797046100
scholarrs797046100
googlers797046100
pharmgkbrs797046100
gwascentralrs797046100
openSNPrs797046100
23andMers797046100
23andMe allrs797046100
SNP Nexus

SNPshotrs797046100
SNPdbers797046100
MSV3drs797046100
GWAS Ctlgrs797046100
Max Magnitude0
ClinVar
Risk rs797046100(G;G)
Alt rs797046100(G;G)
Reference rs797046100(A;A)
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.48932515T>C
CLNSRC
CLNACC RCV000195088.1,