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rs797044567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044567(-;T)
Make rs797044567(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44075937
GeneG6PC3
is asnp
is mentioned by
dbSNPrs797044567
dbSNP (old)rs797044567
ClinGenrs797044567
ebirs797044567
HLIrs797044567
Exacrs797044567
Varsomers797044567
Maprs797044567
PheGenIrs797044567
Biobankrs797044567
1000 genomesrs797044567
hgdprs797044567
ensemblrs797044567
gopubmedrs797044567
geneviewrs797044567
scholarrs797044567
googlers797044567
pharmgkbrs797044567
gwascentralrs797044567
openSNPrs797044567
23andMers797044567
23andMe allrs797044567
SNP Nexus

SNPshotrs797044567
SNPdbers797044567
MSV3drs797044567
GWAS Ctlgrs797044567
Max Magnitude0
ClinVar
Risk rs797044567(T;T)
Alt rs797044567(T;T)
Reference Rs797044567(-;-)
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.42153305dupT
CLNSRC
CLNACC RCV000192090.1,