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rs137854446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854446(G;T)
Make rs137854446(T;T)
ReferenceGRCh37.p5 37.3/135
Chromosome19
Position855978
GeneELANE
is asnp
is mentioned by
dbSNPrs137854446
ebirs137854446
HLIrs137854446
Exacrs137854446
Varsomers137854446
Maprs137854446
PheGenIrs137854446
hapmaprs137854446
1000 genomesrs137854446
hgdprs137854446
ensemblrs137854446
gopubmedrs137854446
geneviewrs137854446
scholarrs137854446
googlers137854446
pharmgkbrs137854446
gwascentralrs137854446
openSNPrs137854446
23andMers137854446
23andMe allrs137854446
SNP Nexus

SNPshotrs137854446
SNPdbers137854446
MSV3drs137854446
GWAS Ctlgrs137854446
Max Magnitude0
OMIM130130
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137854446(T;T)
Alt rs137854446(T;T)
Reference rs137854446(G;G)
Significance Pathogenic
Disease Cyclical neutropenia
Variation info
Gene ELANE
CLNDBN Cyclical neutropenia
Reversed 0
HGVS NC_000019.9:g.855978G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018223.27,