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rs118203969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203969(C;C)
Make rs118203969(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44075328
GeneG6PC3
is asnp
is mentioned by
dbSNPrs118203969
ebirs118203969
HLIrs118203969
Exacrs118203969
Varsomers118203969
Maprs118203969
PheGenIrs118203969
hapmaprs118203969
1000 genomesrs118203969
hgdprs118203969
ensemblrs118203969
gopubmedrs118203969
geneviewrs118203969
scholarrs118203969
googlers118203969
pharmgkbrs118203969
gwascentralrs118203969
openSNPrs118203969
23andMers118203969
23andMe allrs118203969
SNP Nexus

SNPshotrs118203969
SNPdbers118203969
MSV3drs118203969
GWAS Ctlgrs118203969
Max Magnitude0
OMIM611045
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203969(C;C)
Alt rs118203969(C;C)
Reference rs118203969(T;T)
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.42152696T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001093.2,