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rs137854445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854445(A;A)
Make rs137854445(A;G)
ReferenceGRCh37.p5 37.3/135
Chromosome19
Position856019
GeneELANE
is asnp
is mentioned by
dbSNPrs137854445
ebirs137854445
HLIrs137854445
Exacrs137854445
Varsomers137854445
Maprs137854445
PheGenIrs137854445
hapmaprs137854445
1000 genomesrs137854445
hgdprs137854445
ensemblrs137854445
gopubmedrs137854445
geneviewrs137854445
scholarrs137854445
googlers137854445
pharmgkbrs137854445
gwascentralrs137854445
openSNPrs137854445
23andMers137854445
23andMe allrs137854445
SNP Nexus

SNPshotrs137854445
SNPdbers137854445
MSV3drs137854445
GWAS Ctlgrs137854445
Max Magnitude0
OMIM130130
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854445(A,C;A,C)
Alt rs137854445(A,C;A,C)
Reference rs137854445(G;G)
Significance Pathogenic
Disease Cyclical neutropenia
Variation info
Gene ELANE
CLNDBN Cyclical neutropenia
Reversed 0
HGVS NC_000019.9:g.856019G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018222.23,