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rs267606781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606781(G;T)
Make rs267606781(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome19
Position853329
GeneELANE
is asnp
is mentioned by
dbSNPrs267606781
ebirs267606781
HLIrs267606781
Exacrs267606781
Varsomers267606781
Maprs267606781
PheGenIrs267606781
hapmaprs267606781
1000 genomesrs267606781
hgdprs267606781
ensemblrs267606781
gopubmedrs267606781
geneviewrs267606781
scholarrs267606781
googlers267606781
pharmgkbrs267606781
gwascentralrs267606781
openSNPrs267606781
23andMers267606781
23andMe allrs267606781
SNP Nexus

SNPshotrs267606781
SNPdbers267606781
MSV3drs267606781
GWAS Ctlgrs267606781
Max Magnitude0
ClinVar
Risk rs267606781(T;T)
Alt rs267606781(T;T)
Reference rs267606781(G;G)
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.853329G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018231.27,