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rs104895295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104895295(A;C)
Make rs104895295(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position109574881
GeneMMAB, MVK
is asnp
is mentioned by
dbSNPrs104895295
ebirs104895295
HLIrs104895295
Exacrs104895295
Varsomers104895295
Maprs104895295
PheGenIrs104895295
hapmaprs104895295
1000 genomesrs104895295
hgdprs104895295
ensemblrs104895295
gopubmedrs104895295
geneviewrs104895295
scholarrs104895295
googlers104895295
pharmgkbrs104895295
gwascentralrs104895295
openSNPrs104895295
23andMers104895295
23andMe allrs104895295
SNP Nexus

SNPshotrs104895295
SNPdbers104895295
MSV3drs104895295
GWAS Ctlgrs104895295
Max Magnitude0
OMIM251170
Desc
Variant0003
Relatedalso
OMIM260920
Desc
Variant
Relatedalso
ClinVar
Risk rs104895295(C;C)
Alt rs104895295(C;C)
Reference rs104895295(A;A)
Significance Pathogenic
Disease Hyperimmunoglobulin D with periodic fever Mevalonic aciduria
Variation info
Gene MVK MMAB
CLNDBN Hyperimmunoglobulin D with periodic fever Mevalonic aciduria
Reversed 0
HGVS NC_000012.11:g.110012686A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012707.18, RCV000012708.17,


[PMID 11313768] Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.


[PMID 11313769] Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.