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rs690016558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs690016558(A;T)
Make rs690016558(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150056053
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016558
dbSNP (classic)rs690016558
ClinGenrs690016558
ebirs690016558
HLIrs690016558
Exacrs690016558
Gnomadrs690016558
Varsomers690016558
LitVarrs690016558
Maprs690016558
PheGenIrs690016558
Biobankrs690016558
1000 genomesrs690016558
hgdprs690016558
ensemblrs690016558
geneviewrs690016558
scholarrs690016558
googlers690016558
pharmgkbrs690016558
gwascentralrs690016558
openSNPrs690016558
23andMers690016558
SNPshotrs690016558
SNPdbers690016558
MSV3drs690016558
GWAS Ctlgrs690016558
Max Magnitude0
ClinVar
Risk rs690016558(T;T)
Alt rs690016558(T;T)
Reference Rs690016558(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.149435616T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000149534.1,