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rs137854451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854451(A;A)
Make rs137854451(A;G)
ReferenceGRCh37.p5 37.3/135
Chromosome19
Position856000
GeneELANE
is asnp
is mentioned by
dbSNPrs137854451
ebirs137854451
HLIrs137854451
Exacrs137854451
Varsomers137854451
Maprs137854451
PheGenIrs137854451
hapmaprs137854451
1000 genomesrs137854451
hgdprs137854451
ensemblrs137854451
gopubmedrs137854451
geneviewrs137854451
scholarrs137854451
googlers137854451
pharmgkbrs137854451
gwascentralrs137854451
openSNPrs137854451
23andMers137854451
23andMe allrs137854451
SNP Nexus

SNPshotrs137854451
SNPdbers137854451
MSV3drs137854451
GWAS Ctlgrs137854451
Max Magnitude0
OMIM130130
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137854451(A;A)
Alt rs137854451(A;A)
Reference rs137854451(G;G)
Significance Pathogenic
Disease Severe congenital neutropenia autosomal dominant not provided
Variation info
Gene ELANE
CLNDBN Severe congenital neutropenia autosomal dominant not provided
Reversed 0
HGVS NC_000019.9:g.856000G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018232.27, RCV000214338.1,