rs104895319

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104895319(A;A)

Make rs104895319(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109595070

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs104895319
dbSNP (classic)	rs104895319
ClinGen	rs104895319
ebi	rs104895319
HLI	rs104895319
Exac	rs104895319
Gnomad	rs104895319
Varsome	rs104895319
LitVar	rs104895319
Map	rs104895319
PheGenI	rs104895319
Biobank	rs104895319
1000 genomes	rs104895319
hgdp	rs104895319
ensembl	rs104895319
geneview	rs104895319
scholar	rs104895319
google	rs104895319
pharmgkb	rs104895319
gwascentral	rs104895319
openSNP	rs104895319
23andMe	rs104895319
SNPshot	rs104895319
SNPdbe	rs104895319
MSV3d	rs104895319
GWAS Ctlg	rs104895319

Max Magnitude

0

OMIM	251170
Desc
Variant	0007
Related	also

OMIM	260920
Desc
Variant
Related	also

ClinVar
Risk	rs104895319(A;A)
Alt	rs104895319(A;A)
Reference	Rs104895319(G;G)
Significance	Pathogenic
Disease	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever not provided
Variation	info
Gene	MVK
CLNDBN	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever not provided
Reversed	0
HGVS	NC_000012.11:g.110032875G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012712.18, RCV000083890.1, RCV000414603.1,

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