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rs397515556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515556(C;T)
Make rs397515556(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150056332
GeneCSF1R
is asnp
is mentioned by
dbSNPrs397515556
dbSNP (classic)rs397515556
ClinGenrs397515556
ebirs397515556
HLIrs397515556
Exacrs397515556
Gnomadrs397515556
Varsomers397515556
LitVarrs397515556
Maprs397515556
PheGenIrs397515556
Biobankrs397515556
1000 genomesrs397515556
hgdprs397515556
ensemblrs397515556
geneviewrs397515556
scholarrs397515556
googlers397515556
pharmgkbrs397515556
gwascentralrs397515556
openSNPrs397515556
23andMers397515556
SNPshotrs397515556
SNPdbers397515556
MSV3drs397515556
GWAS Ctlgrs397515556
Max Magnitude0
ClinVar
Risk rs397515556(T;T)
Alt rs397515556(T;T)
Reference Rs397515556(C;C)
Significance Pathogenic
Disease Hereditary diffuse leukoencephalopathy with spheroids
Variation info
Gene CSF1R
CLNDBN Hereditary diffuse leukoencephalopathy with spheroids
Reversed 1
HGVS NC_000005.9:g.149435895G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055911.2,