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rs137854450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854450(C;T)
Make rs137854450(T;T)
ReferenceGRCh37.p5 37.3/135
Chromosome19
Position855574
GeneELANE
is asnp
is mentioned by
dbSNPrs137854450
ebirs137854450
HLIrs137854450
Exacrs137854450
Varsomers137854450
Maprs137854450
PheGenIrs137854450
hapmaprs137854450
1000 genomesrs137854450
hgdprs137854450
ensemblrs137854450
gopubmedrs137854450
geneviewrs137854450
scholarrs137854450
googlers137854450
pharmgkbrs137854450
gwascentralrs137854450
openSNPrs137854450
23andMers137854450
23andMe allrs137854450
SNP Nexus

SNPshotrs137854450
SNPdbers137854450
MSV3drs137854450
GWAS Ctlgrs137854450
Max Magnitude0
OMIM130130
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137854450(T;T)
Alt rs137854450(T;T)
Reference rs137854450(C;C)
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.855574C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018229.27,