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rs28929488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28929488(A;A)
Make rs28929488(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position94304471
GeneSERPINA6
is asnp
is mentioned by
dbSNPrs28929488
ebirs28929488
HLIrs28929488
Exacrs28929488
Varsomers28929488
Maprs28929488
PheGenIrs28929488
hapmaprs28929488
1000 genomesrs28929488
hgdprs28929488
ensemblrs28929488
gopubmedrs28929488
geneviewrs28929488
scholarrs28929488
googlers28929488
pharmgkbrs28929488
gwascentralrs28929488
openSNPrs28929488
23andMers28929488
23andMe allrs28929488
SNP Nexus

SNPshotrs28929488
SNPdbers28929488
MSV3drs28929488
GWAS Ctlgrs28929488
Max Magnitude0
OMIM122500
DescCORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
Variant0002
Relatedalso


ClinVar
Risk rs28929488(A;A)
Alt rs28929488(A;A)
Reference rs28929488(G;G)
Significance Pathogenic
Disease Corticosteroid-binding globulin deficiency
Variation info
Gene SERPINA6
CLNDBN Corticosteroid-binding globulin deficiency
Reversed 1
HGVS NC_000014.8:g.94770808C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018496.27,