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rs690016548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs690016548(A;A)
Make rs690016548(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150056331
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016548
dbSNP (classic)rs690016548
ClinGenrs690016548
ebirs690016548
HLIrs690016548
Exacrs690016548
Gnomadrs690016548
Varsomers690016548
LitVarrs690016548
Maprs690016548
PheGenIrs690016548
Biobankrs690016548
1000 genomesrs690016548
hgdprs690016548
ensemblrs690016548
geneviewrs690016548
scholarrs690016548
googlers690016548
pharmgkbrs690016548
gwascentralrs690016548
openSNPrs690016548
23andMers690016548
SNPshotrs690016548
SNPdbers690016548
MSV3drs690016548
GWAS Ctlgrs690016548
Max Magnitude0
ClinVar
Risk rs690016548(A;A)
Alt rs690016548(A;A)
Reference Rs690016548(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.149435894C>T
CLNSRC
CLNACC RCV000149523.1,