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rs690016563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs690016563(C;C)
Make rs690016563(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150061731
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016563
dbSNP (classic)rs690016563
ClinGenrs690016563
ebirs690016563
HLIrs690016563
Exacrs690016563
Gnomadrs690016563
Varsomers690016563
LitVarrs690016563
Maprs690016563
PheGenIrs690016563
Biobankrs690016563
1000 genomesrs690016563
hgdprs690016563
ensemblrs690016563
geneviewrs690016563
scholarrs690016563
googlers690016563
pharmgkbrs690016563
gwascentralrs690016563
openSNPrs690016563
23andMers690016563
SNPshotrs690016563
SNPdbers690016563
MSV3drs690016563
GWAS Ctlgrs690016563
Max Magnitude0
ClinVar
Risk rs690016563(C;C)
Alt rs690016563(C;C)
Reference Rs690016563(T;T)
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.149441294A>G
CLNSRC
CLNACC RCV000149539.1,