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rs104895382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895382(C;C)
Make rs104895382(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109579921
GeneMVK
is asnp
is mentioned by
dbSNPrs104895382
dbSNP (classic)rs104895382
ClinGenrs104895382
ebirs104895382
HLIrs104895382
Exacrs104895382
Gnomadrs104895382
Varsomers104895382
LitVarrs104895382
Maprs104895382
PheGenIrs104895382
Biobankrs104895382
1000 genomesrs104895382
hgdprs104895382
ensemblrs104895382
geneviewrs104895382
scholarrs104895382
googlers104895382
pharmgkbrs104895382
gwascentralrs104895382
openSNPrs104895382
23andMers104895382
SNPshotrs104895382
SNPdbers104895382
MSV3drs104895382
GWAS Ctlgrs104895382
Max Magnitude0
ClinVar
Risk rs104895382(C;C)
Alt rs104895382(C;C)
Reference Rs104895382(T;T)
Significance Pathogenic
Disease Hyperimmunoglobulin D with periodic fever not provided
Variation info
Gene MVK
CLNDBN Hyperimmunoglobulin D with periodic fever not provided
Reversed 0
HGVS NC_000012.11:g.110017726T>C
CLNSRC
CLNACC RCV000083833.1, RCV000220019.2,