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

rs281860278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281860278(C;C)
Make rs281860278(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150055288
GeneCSF1R
is asnp
is mentioned by
dbSNPrs281860278
dbSNP (classic)rs281860278
ClinGenrs281860278
ebirs281860278
HLIrs281860278
Exacrs281860278
Gnomadrs281860278
Varsomers281860278
LitVarrs281860278
Maprs281860278
PheGenIrs281860278
Biobankrs281860278
1000 genomesrs281860278
hgdprs281860278
ensemblrs281860278
geneviewrs281860278
scholarrs281860278
googlers281860278
pharmgkbrs281860278
gwascentralrs281860278
openSNPrs281860278
23andMers281860278
SNPshotrs281860278
SNPdbers281860278
MSV3drs281860278
GWAS Ctlgrs281860278
Max Magnitude0
ClinVar
Risk rs281860278(C;C) rs281860278(G;G)
Alt rs281860278(C;C) rs281860278(G;G)
Reference Rs281860278(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.149434851A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000031936.1,