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rs104895317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895317(A;A)
Make rs104895317(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109595142
GeneMVK
is asnp
is mentioned by
dbSNPrs104895317
ebirs104895317
HLIrs104895317
Exacrs104895317
Varsomers104895317
Maprs104895317
PheGenIrs104895317
hapmaprs104895317
1000 genomesrs104895317
hgdprs104895317
ensemblrs104895317
gopubmedrs104895317
geneviewrs104895317
scholarrs104895317
googlers104895317
pharmgkbrs104895317
gwascentralrs104895317
openSNPrs104895317
23andMers104895317
23andMe allrs104895317
SNP Nexus

SNPshotrs104895317
SNPdbers104895317
MSV3drs104895317
GWAS Ctlgrs104895317
Max Magnitude0
OMIM251170
Desc
Variant0006
Relatedalso
OMIM260920
Desc
Variant
Relatedalso
ClinVar
Risk rs104895317(A;A)
Alt rs104895317(A;A)
Reference rs104895317(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.110032947G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012706.26, RCV000074422.21,


[PMID 9334262] Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.