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rs769441127

From SNPedia

Orientationplus
Make rs769441127(-;-)
Make rs769441127(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44071175
GeneG6PC3
is asnp
is mentioned by
dbSNPrs769441127
ebirs769441127
HLIrs769441127
Exacrs769441127
Varsomers769441127
Maprs769441127
PheGenIrs769441127
hapmaprs769441127
1000 genomesrs769441127
hgdprs769441127
ensemblrs769441127
gopubmedrs769441127
geneviewrs769441127
scholarrs769441127
googlers769441127
pharmgkbrs769441127
gwascentralrs769441127
openSNPrs769441127
23andMers769441127
23andMe allrs769441127
SNP Nexus

SNPshotrs769441127
SNPdbers769441127
MSV3drs769441127
GWAS Ctlgrs769441127
Max Magnitude
ClinVar
Risk rs769441127(;)
Alt rs769441127(;)
Reference rs769441127(C;C)
Significance Pathogenic
Disease Severe congenital neutropenia 4
Variation info
Gene G6PC3
CLNDBN Severe congenital neutropenia 4, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.42148543delC
CLNSRC
CLNACC RCV000192088.1,