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rs28934897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28934897(A;A)
Make rs28934897(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109596515
GeneMVK
is asnp
is mentioned by
dbSNPrs28934897
ebirs28934897
HLIrs28934897
Exacrs28934897
Varsomers28934897
Maprs28934897
PheGenIrs28934897
hapmaprs28934897
1000 genomesrs28934897
hgdprs28934897
ensemblrs28934897
gopubmedrs28934897
geneviewrs28934897
scholarrs28934897
googlers28934897
pharmgkbrs28934897
gwascentralrs28934897
openSNPrs28934897
23andMers28934897
23andMe allrs28934897
SNP Nexus

SNPshotrs28934897
SNPdbers28934897
MSV3drs28934897
GWAS Ctlgrs28934897
Max Magnitude0
OMIM251170
DescHYPER-IgD SYNDROME
Variant0002
Relatedalso
ClinVar
Risk rs28934897(A;A)
Alt rs28934897(A;A)
Reference rs28934897(G;G)
Significance Pathogenic
Disease Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not provided
Variation info
Gene MVK
CLNDBN Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not provided
Reversed 0
HGVS NC_000012.11:g.110034320G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012705.17, RCV000191108.1, RCV000221789.1,