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rs118203968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203968(A;A)
Make rs118203968(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44075760
GeneG6PC3
is asnp
is mentioned by
dbSNPrs118203968
ebirs118203968
HLIrs118203968
Exacrs118203968
Varsomers118203968
Maprs118203968
PheGenIrs118203968
hapmaprs118203968
1000 genomesrs118203968
hgdprs118203968
ensemblrs118203968
gopubmedrs118203968
geneviewrs118203968
scholarrs118203968
googlers118203968
pharmgkbrs118203968
gwascentralrs118203968
openSNPrs118203968
23andMers118203968
23andMe allrs118203968
SNP Nexus

SNPshotrs118203968
SNPdbers118203968
MSV3drs118203968
GWAS Ctlgrs118203968
Max Magnitude0
OMIM611045
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203968(A;A)
Alt rs118203968(A;A)
Reference rs118203968(G;G)
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.42153128G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001092.2,