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rs606231475

From SNPedia

Orientationminus
Geno Mag Summary
(CCACTGGAGCGACTGG;CCACTGGAGCGACTGG) 0 common in clinvar
Make rs606231475(-;-)
Make rs606231475(-;CCACTGGAGCGACTGG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position36472272
GeneCSF3R
is asnp
is mentioned by
dbSNPrs606231475
ebirs606231475
HLIrs606231475
Exacrs606231475
Varsomers606231475
Maprs606231475
PheGenIrs606231475
hapmaprs606231475
1000 genomesrs606231475
hgdprs606231475
ensemblrs606231475
gopubmedrs606231475
geneviewrs606231475
scholarrs606231475
googlers606231475
pharmgkbrs606231475
gwascentralrs606231475
openSNPrs606231475
23andMers606231475
23andMe allrs606231475
SNP Nexus

SNPshotrs606231475
SNPdbers606231475
MSV3drs606231475
GWAS Ctlgrs606231475
Max Magnitude0
ClinVar
Risk rs606231475(;)
Alt rs606231475(;)
Reference rs606231475(CCACTGGAGCGACTGG;CCACTGGAGCGACTGG)
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.36937873_36937888del16
CLNSRC OMIM Allelic Variant
CLNACC RCV000149409.1, RCV000234852.1,