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rs690016554

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs690016554(A;G)
Make rs690016554(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150054432
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016554
ebirs690016554
HLIrs690016554
Exacrs690016554
Varsomers690016554
Maprs690016554
PheGenIrs690016554
hapmaprs690016554
1000 genomesrs690016554
hgdprs690016554
ensemblrs690016554
gopubmedrs690016554
geneviewrs690016554
scholarrs690016554
googlers690016554
pharmgkbrs690016554
gwascentralrs690016554
openSNPrs690016554
23andMers690016554
23andMe allrs690016554
SNP Nexus

SNPshotrs690016554
SNPdbers690016554
MSV3drs690016554
GWAS Ctlgrs690016554
Max Magnitude0
ClinVar
Risk rs690016554(G;G)
Alt rs690016554(G;G)
Reference rs690016554(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.149433995T>C
CLNSRC
CLNACC RCV000149529.1,