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rs104895360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895360(C;T)
Make rs104895360(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109596548
GeneMVK
is asnp
is mentioned by
dbSNPrs104895360
dbSNP (classic)rs104895360
ClinGenrs104895360
ebirs104895360
HLIrs104895360
Exacrs104895360
Gnomadrs104895360
Varsomers104895360
LitVarrs104895360
Maprs104895360
PheGenIrs104895360
Biobankrs104895360
1000 genomesrs104895360
hgdprs104895360
ensemblrs104895360
geneviewrs104895360
scholarrs104895360
googlers104895360
pharmgkbrs104895360
gwascentralrs104895360
openSNPrs104895360
23andMers104895360
SNPshotrs104895360
SNPdbers104895360
MSV3drs104895360
GWAS Ctlgrs104895360
Max Magnitude0
ClinVar
Risk rs104895360(T;T)
Alt rs104895360(T;T)
Reference Rs104895360(C;C)
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.110034353C>T
CLNSRC
CLNACC RCV000083824.1, RCV000214882.2,