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rs118203971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203971(C;C)
Make rs118203971(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44075786
GeneG6PC3
is asnp
is mentioned by
dbSNPrs118203971
ebirs118203971
HLIrs118203971
Exacrs118203971
Varsomers118203971
Maprs118203971
PheGenIrs118203971
hapmaprs118203971
1000 genomesrs118203971
hgdprs118203971
ensemblrs118203971
gopubmedrs118203971
geneviewrs118203971
scholarrs118203971
googlers118203971
pharmgkbrs118203971
gwascentralrs118203971
openSNPrs118203971
23andMers118203971
23andMe allrs118203971
SNP Nexus

SNPshotrs118203971
SNPdbers118203971
MSV3drs118203971
GWAS Ctlgrs118203971
Max Magnitude0
OMIM611045
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203971(C;C)
Alt rs118203971(C;C)
Reference rs118203971(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.42153154G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001095.2,