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rs104895300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895300(C;T)
Make rs104895300(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109581523
GeneMVK
is asnp
is mentioned by
dbSNPrs104895300
ebirs104895300
HLIrs104895300
Exacrs104895300
Varsomers104895300
Maprs104895300
PheGenIrs104895300
hapmaprs104895300
1000 genomesrs104895300
hgdprs104895300
ensemblrs104895300
gopubmedrs104895300
geneviewrs104895300
scholarrs104895300
googlers104895300
pharmgkbrs104895300
gwascentralrs104895300
openSNPrs104895300
23andMers104895300
23andMe allrs104895300
SNP Nexus

SNPshotrs104895300
SNPdbers104895300
MSV3drs104895300
GWAS Ctlgrs104895300
Max Magnitude0
ClinVar
Risk rs104895300(T;T)
Alt rs104895300(T;T)
Reference rs104895300(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.110019328C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032937.25,