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rs118203970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203970(C;G)
Make rs118203970(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44071106
GeneG6PC3
is asnp
is mentioned by
dbSNPrs118203970
ebirs118203970
HLIrs118203970
Exacrs118203970
Varsomers118203970
Maprs118203970
PheGenIrs118203970
hapmaprs118203970
1000 genomesrs118203970
hgdprs118203970
ensemblrs118203970
gopubmedrs118203970
geneviewrs118203970
scholarrs118203970
googlers118203970
pharmgkbrs118203970
gwascentralrs118203970
openSNPrs118203970
23andMers118203970
23andMe allrs118203970
SNP Nexus

SNPshotrs118203970
SNPdbers118203970
MSV3drs118203970
GWAS Ctlgrs118203970
Max Magnitude0
OMIM611045
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203970(G;G)
Alt rs118203970(G;G)
Reference rs118203970(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.42148474C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001094.2,