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

rs28931611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28931611(C;C)
Make rs28931611(C;T)
ReferenceGRCh37 37.1/131
Chromosome19
Position853019
GeneELANE
is asnp
is mentioned by
dbSNPrs28931611
ebirs28931611
HLIrs28931611
Exacrs28931611
Varsomers28931611
Maprs28931611
PheGenIrs28931611
hapmaprs28931611
1000 genomesrs28931611
hgdprs28931611
ensemblrs28931611
gopubmedrs28931611
geneviewrs28931611
scholarrs28931611
googlers28931611
pharmgkbrs28931611
gwascentralrs28931611
openSNPrs28931611
23andMers28931611
23andMe allrs28931611
SNP Nexus

SNPshotrs28931611
SNPdbers28931611
MSV3drs28931611
GWAS Ctlgrs28931611
Max Magnitude0
OMIM130130
DescNEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1
Variant0009
Relatedalso
Neighborrs28929494
Distance319


ClinVar
Risk rs28931611(C;C)
Alt rs28931611(C;C)
Reference rs28931611(T;T)
Significance Pathogenic
Disease Severe congenital neutropenia autosomal dominant
Variation info
Gene ELANE
CLNDBN Severe congenital neutropenia autosomal dominant
Reversed 0
HGVS NC_000019.9:g.853019T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018230.27,