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rs148559256

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148559256(C;T)
Make rs148559256(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44075831
GeneG6PC3
is asnp
is mentioned by
dbSNPrs148559256
ebirs148559256
HLIrs148559256
Exacrs148559256
Varsomers148559256
Maprs148559256
PheGenIrs148559256
hapmaprs148559256
1000 genomesrs148559256
hgdprs148559256
ensemblrs148559256
gopubmedrs148559256
geneviewrs148559256
scholarrs148559256
googlers148559256
pharmgkbrs148559256
gwascentralrs148559256
openSNPrs148559256
23andMers148559256
23andMe allrs148559256
SNP Nexus

SNPshotrs148559256
SNPdbers148559256
MSV3drs148559256
GWAS Ctlgrs148559256
Max Magnitude0
ClinVar
Risk rs148559256(T;T)
Alt rs148559256(T;T)
Reference rs148559256(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.42153199C>T
CLNSRC
CLNACC RCV000192089.1,