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rs797045007

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045007(C;C)
Make rs797045007(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position852380
GeneELANE
is asnp
is mentioned by
dbSNPrs797045007
dbSNP (classic)rs797045007
ClinGenrs797045007
ebirs797045007
HLIrs797045007
Exacrs797045007
Gnomadrs797045007
Varsomers797045007
LitVarrs797045007
Maprs797045007
PheGenIrs797045007
Biobankrs797045007
1000 genomesrs797045007
hgdprs797045007
ensemblrs797045007
geneviewrs797045007
scholarrs797045007
googlers797045007
pharmgkbrs797045007
gwascentralrs797045007
openSNPrs797045007
23andMers797045007
SNPshotrs797045007
SNPdbers797045007
MSV3drs797045007
GWAS Ctlgrs797045007
Max Magnitude0
ClinVar
Risk rs797045007(C;C)
Alt rs797045007(C;C)
Reference Rs797045007(G;G)
Significance Probable-Pathogenic
Disease Cyclical neutropenia
Variation info
Gene ELANE
CLNDBN Cyclical neutropenia
Reversed 0
HGVS NC_000019.9:g.852380G>C
CLNSRC
CLNACC RCV000190505.1,