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rs28928872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28928872(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85551919
GeneGGCX
is asnp
is mentioned by
dbSNPrs28928872
ebirs28928872
HLIrs28928872
Exacrs28928872
Varsomers28928872
Maprs28928872
PheGenIrs28928872
hapmaprs28928872
1000 genomesrs28928872
hgdprs28928872
ensemblrs28928872
gopubmedrs28928872
geneviewrs28928872
scholarrs28928872
googlers28928872
pharmgkbrs28928872
gwascentralrs28928872
openSNPrs28928872
23andMers28928872
23andMe allrs28928872
SNP Nexus

SNPshotrs28928872
SNPdbers28928872
MSV3drs28928872
GWAS Ctlgrs28928872
Max Magnitude0
OMIM137167
DescVITAMIN K-DEPENDENT COAGULATION DEFECT
Variant0002
Relatedalso


ClinVar
Risk rs28928872(C;C)
Alt rs28928872(C;C)
Reference rs28928872(G;G)
Significance Pathogenic
Disease Vitamin k-dependent clotting factors
Variation info
Gene GGCX
CLNDBN Vitamin k-dependent clotting factors, combined deficiency of, 1
Reversed 1
HGVS NC_000002.11:g.85779042C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017579.28,