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

rs137854449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854449(A;A)
Make rs137854449(A;G)
ReferenceGRCh37.p5 37.3/135
Chromosome19
Position853338
GeneELANE
is asnp
is mentioned by
dbSNPrs137854449
ebirs137854449
HLIrs137854449
Exacrs137854449
Varsomers137854449
Maprs137854449
PheGenIrs137854449
hapmaprs137854449
1000 genomesrs137854449
hgdprs137854449
ensemblrs137854449
gopubmedrs137854449
geneviewrs137854449
scholarrs137854449
googlers137854449
pharmgkbrs137854449
gwascentralrs137854449
openSNPrs137854449
23andMers137854449
23andMe allrs137854449
SNP Nexus

SNPshotrs137854449
SNPdbers137854449
MSV3drs137854449
GWAS Ctlgrs137854449
Merged fromRs28929494
Max Magnitude0
OMIM130130
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137854449(A,T;A,T)
Alt rs137854449(A,T;A,T)
Reference rs137854449(G;G)
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.853338G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018231.27,