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rs104895319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895319(A;A)
Make rs104895319(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109595070
GeneMVK
is asnp
is mentioned by
dbSNPrs104895319
ebirs104895319
HLIrs104895319
Exacrs104895319
Varsomers104895319
Maprs104895319
PheGenIrs104895319
hapmaprs104895319
1000 genomesrs104895319
hgdprs104895319
ensemblrs104895319
gopubmedrs104895319
geneviewrs104895319
scholarrs104895319
googlers104895319
pharmgkbrs104895319
gwascentralrs104895319
openSNPrs104895319
23andMers104895319
23andMe allrs104895319
SNP Nexus

SNPshotrs104895319
SNPdbers104895319
MSV3drs104895319
GWAS Ctlgrs104895319
Max Magnitude0
OMIM251170
Desc
Variant0007
Relatedalso
OMIM260920
Desc
Variant
Relatedalso
ClinVar
Risk rs104895319(A;A)
Alt rs104895319(A;A)
Reference rs104895319(G;G)
Significance Pathogenic
Disease Mevalonic aciduria Hyperimmunoglobulin D with periodic fever
Variation info
Gene MVK
CLNDBN Mevalonic aciduria Hyperimmunoglobulin D with periodic fever
Reversed 0
HGVS NC_000012.11:g.110032875G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012712.18, RCV000083890.1,


[PMID 1377680] Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.