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rs690016564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs690016564(A;A)
Make rs690016564(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150056311
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016564
dbSNP (classic)rs690016564
ClinGenrs690016564
ebirs690016564
HLIrs690016564
Exacrs690016564
Gnomadrs690016564
Varsomers690016564
LitVarrs690016564
Maprs690016564
PheGenIrs690016564
Biobankrs690016564
1000 genomesrs690016564
hgdprs690016564
ensemblrs690016564
geneviewrs690016564
scholarrs690016564
googlers690016564
pharmgkbrs690016564
gwascentralrs690016564
openSNPrs690016564
23andMers690016564
SNPshotrs690016564
SNPdbers690016564
MSV3drs690016564
GWAS Ctlgrs690016564
Max Magnitude0
ClinVar
Risk rs690016564(A;A)
Alt rs690016564(A;A)
Reference Rs690016564(G;G)
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.149435874C>T
CLNSRC
CLNACC RCV000149540.1,