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rs690016561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs690016561(A;C)
Make rs690016561(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150056283
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016561
dbSNP (classic)rs690016561
ClinGenrs690016561
ebirs690016561
HLIrs690016561
Exacrs690016561
Gnomadrs690016561
Varsomers690016561
LitVarrs690016561
Maprs690016561
PheGenIrs690016561
Biobankrs690016561
1000 genomesrs690016561
hgdprs690016561
ensemblrs690016561
geneviewrs690016561
scholarrs690016561
googlers690016561
pharmgkbrs690016561
gwascentralrs690016561
openSNPrs690016561
23andMers690016561
SNPshotrs690016561
SNPdbers690016561
MSV3drs690016561
GWAS Ctlgrs690016561
Max Magnitude0
ClinVar
Risk rs690016561(C;C)
Alt rs690016561(C;C)
Reference Rs690016561(A;A)
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.149435846T>G
CLNSRC
CLNACC RCV000149537.1,