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rs606231474

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231474(-;-)
Make rs606231474(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position36471473
GeneCSF3R
is asnp
is mentioned by
dbSNPrs606231474
ebirs606231474
HLIrs606231474
Exacrs606231474
Varsomers606231474
Maprs606231474
PheGenIrs606231474
hapmaprs606231474
1000 genomesrs606231474
hgdprs606231474
ensemblrs606231474
gopubmedrs606231474
geneviewrs606231474
scholarrs606231474
googlers606231474
pharmgkbrs606231474
gwascentralrs606231474
openSNPrs606231474
23andMers606231474
23andMe allrs606231474
SNP Nexus

SNPshotrs606231474
SNPdbers606231474
MSV3drs606231474
GWAS Ctlgrs606231474
Max Magnitude0
ClinVar
Risk rs606231474(;)
Alt rs606231474(;)
Reference rs606231474(G;G)
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.36937074delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000149409.1, RCV000234853.1,