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rs121917790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917790(C;T)
Make rs121917790(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109581517
GeneMVK
is asnp
is mentioned by
dbSNPrs121917790
ebirs121917790
HLIrs121917790
Exacrs121917790
Varsomers121917790
Maprs121917790
PheGenIrs121917790
hapmaprs121917790
1000 genomesrs121917790
hgdprs121917790
ensemblrs121917790
gopubmedrs121917790
geneviewrs121917790
scholarrs121917790
googlers121917790
pharmgkbrs121917790
gwascentralrs121917790
openSNPrs121917790
23andMers121917790
23andMe allrs121917790
SNP Nexus

SNPshotrs121917790
SNPdbers121917790
MSV3drs121917790
GWAS Ctlgrs121917790
Max Magnitude0
OMIM251170
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121917790(T;T)
Alt rs121917790(T;T)
Reference rs121917790(C;C)
Significance Pathogenic
Disease Hyperimmunoglobulin D with periodic fever
Variation info
Gene MVK
CLNDBN Hyperimmunoglobulin D with periodic fever
Reversed 0
HGVS NC_000012.11:g.110019322C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012711.17,