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rs775224457

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs775224457(C;T)
Make rs775224457(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44071095
GeneG6PC3
is asnp
is mentioned by
dbSNPrs775224457
ebirs775224457
HLIrs775224457
Exacrs775224457
Varsomers775224457
Maprs775224457
PheGenIrs775224457
hapmaprs775224457
1000 genomesrs775224457
hgdprs775224457
ensemblrs775224457
gopubmedrs775224457
geneviewrs775224457
scholarrs775224457
googlers775224457
pharmgkbrs775224457
gwascentralrs775224457
openSNPrs775224457
23andMers775224457
23andMe allrs775224457
SNP Nexus

SNPshotrs775224457
SNPdbers775224457
MSV3drs775224457
GWAS Ctlgrs775224457
Max Magnitude0
ClinVar
Risk rs775224457(T;T)
Alt rs775224457(T;T)
Reference rs775224457(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.42148463C>T
CLNSRC
CLNACC RCV000192087.1,