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rs104895323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs104895323(-;G)
Make rs104895323(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position109581444
GeneMVK
is asnp
is mentioned by
dbSNPrs104895323
dbSNP (classic)rs104895323
ClinGenrs104895323
ebirs104895323
HLIrs104895323
Exacrs104895323
Gnomadrs104895323
Varsomers104895323
LitVarrs104895323
Maprs104895323
PheGenIrs104895323
Biobankrs104895323
1000 genomesrs104895323
hgdprs104895323
ensemblrs104895323
geneviewrs104895323
scholarrs104895323
googlers104895323
pharmgkbrs104895323
gwascentralrs104895323
openSNPrs104895323
23andMers104895323
SNPshotrs104895323
SNPdbers104895323
MSV3drs104895323
GWAS Ctlgrs104895323
Max Magnitude0
ClinVar
Risk rs104895323(G;G)
Alt rs104895323(G;G)
Reference Rs104895323(-;-)
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.110019249dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000083842.4,