Have questions? Visit https://www.reddit.com/r/SNPedia

rs690016550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs690016550(C;C)
Make rs690016550(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150056100
GeneCSF1R
is asnp
is mentioned by
dbSNPrs690016550
dbSNP (classic)rs690016550
ClinGenrs690016550
ebirs690016550
HLIrs690016550
Exacrs690016550
Gnomadrs690016550
Varsomers690016550
LitVarrs690016550
Maprs690016550
PheGenIrs690016550
Biobankrs690016550
1000 genomesrs690016550
hgdprs690016550
ensemblrs690016550
geneviewrs690016550
scholarrs690016550
googlers690016550
pharmgkbrs690016550
gwascentralrs690016550
openSNPrs690016550
23andMers690016550
SNPshotrs690016550
SNPdbers690016550
MSV3drs690016550
GWAS Ctlgrs690016550
Max Magnitude0
ClinVar
Risk rs690016550(C;C)
Alt rs690016550(C;C)
Reference Rs690016550(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.149435663A>G
CLNSRC
CLNACC RCV000149525.1,