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rs606231473

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231473(C;T)
Make rs606231473(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position36472313
GeneCSF3R
is asnp
is mentioned by
dbSNPrs606231473
ebirs606231473
HLIrs606231473
Exacrs606231473
Varsomers606231473
Maprs606231473
PheGenIrs606231473
hapmaprs606231473
1000 genomesrs606231473
hgdprs606231473
ensemblrs606231473
gopubmedrs606231473
geneviewrs606231473
scholarrs606231473
googlers606231473
pharmgkbrs606231473
gwascentralrs606231473
openSNPrs606231473
23andMers606231473
23andMe allrs606231473
SNP Nexus

SNPshotrs606231473
SNPdbers606231473
MSV3drs606231473
GWAS Ctlgrs606231473
Max Magnitude0
ClinVar
Risk rs606231473(T;T)
Alt rs606231473(T;T)
Reference rs606231473(C;C)
Significance Pathogenic
Disease Severe congenital neutropenia Neutropenia
Variation info
Gene CSF3R
CLNDBN Severe congenital neutropenia Neutropenia, severe congenital, 7, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.36937914G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149408.2, RCV000234854.1,