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rs104895332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895332(C;C)
Make rs104895332(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109586102
GeneMVK
is asnp
is mentioned by
dbSNPrs104895332
dbSNP (classic)rs104895332
ClinGenrs104895332
ebirs104895332
HLIrs104895332
Exacrs104895332
Gnomadrs104895332
Varsomers104895332
LitVarrs104895332
Maprs104895332
PheGenIrs104895332
Biobankrs104895332
1000 genomesrs104895332
hgdprs104895332
ensemblrs104895332
geneviewrs104895332
scholarrs104895332
googlers104895332
pharmgkbrs104895332
gwascentralrs104895332
openSNPrs104895332
23andMers104895332
SNPshotrs104895332
SNPdbers104895332
MSV3drs104895332
GWAS Ctlgrs104895332
Max Magnitude0
ClinVar
Risk rs104895332(C;C)
Alt rs104895332(C;C)
Reference Rs104895332(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.110023907T>C
CLNSRC
CLNACC RCV000083853.1, RCV000217732.1,