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rs137854447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854447(C;T)
Make rs137854447(T;T)
ReferenceGRCh37.p5 37.3/135
Chromosome19
Position852990
GeneELANE
is asnp
is mentioned by
dbSNPrs137854447
ebirs137854447
HLIrs137854447
Exacrs137854447
Varsomers137854447
Maprs137854447
PheGenIrs137854447
hapmaprs137854447
1000 genomesrs137854447
hgdprs137854447
ensemblrs137854447
gopubmedrs137854447
geneviewrs137854447
scholarrs137854447
googlers137854447
pharmgkbrs137854447
gwascentralrs137854447
openSNPrs137854447
23andMers137854447
23andMe allrs137854447
SNP Nexus

SNPshotrs137854447
SNPdbers137854447
MSV3drs137854447
GWAS Ctlgrs137854447
Max Magnitude0
OMIM130130
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137854447(A,G,T;A,G,T)
Alt rs137854447(A,G,T;A,G,T)
Reference rs137854447(C;C)
Significance Pathogenic
Disease Cyclical neutropenia
Variation info
Gene ELANE
CLNDBN Cyclical neutropenia
Reversed 0
HGVS NC_000019.9:g.852990C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018224.27,