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

rs879253750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879253750(A;T)
Make rs879253750(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position36472141
GeneCSF3R
is asnp
is mentioned by
dbSNPrs879253750
dbSNP (classic)rs879253750
ClinGenrs879253750
ebirs879253750
HLIrs879253750
Exacrs879253750
Gnomadrs879253750
Varsomers879253750
LitVarrs879253750
Maprs879253750
PheGenIrs879253750
Biobankrs879253750
1000 genomesrs879253750
hgdprs879253750
ensemblrs879253750
geneviewrs879253750
scholarrs879253750
googlers879253750
pharmgkbrs879253750
gwascentralrs879253750
openSNPrs879253750
23andMers879253750
SNPshotrs879253750
SNPdbers879253750
MSV3drs879253750
GWAS Ctlgrs879253750
Max Magnitude0
ClinVar
Risk rs879253750(T;T)
Alt rs879253750(T;T)
Reference Rs879253750(A;A)
Significance Pathogenic
Disease Neutropenia
Variation info
Gene CSF3R
CLNDBN Neutropenia, severe congenital, 7, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.36937742T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000234855.1,