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rs690016562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs690016562(C;T)
Make rs690016562(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150056112
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016562
dbSNP (classic)rs690016562
ClinGenrs690016562
ebirs690016562
HLIrs690016562
Exacrs690016562
Gnomadrs690016562
Varsomers690016562
LitVarrs690016562
Maprs690016562
PheGenIrs690016562
Biobankrs690016562
1000 genomesrs690016562
hgdprs690016562
ensemblrs690016562
geneviewrs690016562
scholarrs690016562
googlers690016562
pharmgkbrs690016562
gwascentralrs690016562
openSNPrs690016562
23andMers690016562
SNPshotrs690016562
SNPdbers690016562
MSV3drs690016562
GWAS Ctlgrs690016562
Max Magnitude0
ClinVar
Risk rs690016562(T;T)
Alt rs690016562(T;T)
Reference Rs690016562(C;C)
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.149435675G>A
CLNSRC
CLNACC RCV000149538.1,