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rs730880095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880095(C;G)
Make rs730880095(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position855955
GeneELANE
is asnp
is mentioned by
dbSNPrs730880095
dbSNP (classic)rs730880095
ClinGenrs730880095
ebirs730880095
HLIrs730880095
Exacrs730880095
Gnomadrs730880095
Varsomers730880095
LitVarrs730880095
Maprs730880095
PheGenIrs730880095
Biobankrs730880095
1000 genomesrs730880095
hgdprs730880095
ensemblrs730880095
geneviewrs730880095
scholarrs730880095
googlers730880095
pharmgkbrs730880095
gwascentralrs730880095
openSNPrs730880095
23andMers730880095
SNPshotrs730880095
SNPdbers730880095
MSV3drs730880095
GWAS Ctlgrs730880095
Max Magnitude0
ClinVar
Risk rs730880095(G;G)
Alt rs730880095(G;G)
Reference Rs730880095(C;C)
Significance Probable-Pathogenic
Disease Cyclical neutropenia
Variation info
Gene ELANE
CLNDBN Cyclical neutropenia
Reversed 0
HGVS NC_000019.9:g.855955C>G
CLNSRC
CLNACC RCV000157220.1,