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rs690016546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs690016546(-;-)
Make rs690016546(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150061777
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016546
dbSNP (classic)rs690016546
ClinGenrs690016546
ebirs690016546
HLIrs690016546
Exacrs690016546
Gnomadrs690016546
Varsomers690016546
LitVarrs690016546
Maprs690016546
PheGenIrs690016546
Biobankrs690016546
1000 genomesrs690016546
hgdprs690016546
ensemblrs690016546
geneviewrs690016546
scholarrs690016546
googlers690016546
pharmgkbrs690016546
gwascentralrs690016546
openSNPrs690016546
23andMers690016546
SNPshotrs690016546
SNPdbers690016546
MSV3drs690016546
GWAS Ctlgrs690016546
Max Magnitude0
ClinVar
Risk rs690016546(-;-)
Alt rs690016546(-;-)
Reference Rs690016546(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.149441340delT
CLNSRC
CLNACC RCV000149521.1,