rs121917789

Orientation

plus

Stabilized

plus

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

Make rs121917789(A;C)

Make rs121917789(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109595044

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs121917789
dbSNP (classic)	rs121917789
ClinGen	rs121917789
ebi	rs121917789
HLI	rs121917789
Exac	rs121917789
Gnomad	rs121917789
Varsome	rs121917789
LitVar	rs121917789
Map	rs121917789
PheGenI	rs121917789
Biobank	rs121917789
1000 genomes	rs121917789
hgdp	rs121917789
ensembl	rs121917789
geneview	rs121917789
scholar	rs121917789
google	rs121917789
pharmgkb	rs121917789
gwascentral	rs121917789
openSNP	rs121917789
23andMe	rs121917789
SNPshot	rs121917789
SNPdbe	rs121917789
MSV3d	rs121917789
GWAS Ctlg	rs121917789

Merged from

Rs28934896

Max Magnitude

0

OMIM	251170
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121917789(C;C) rs121917789(G;G)
Alt	rs121917789(C;C) rs121917789(G;G)
Reference	Rs121917789(A;A)
Significance	Pathogenic
Disease	Mevalonic aciduria
Variation	info
Gene	MVK
CLNDBN	Mevalonic aciduria
Reversed	0
HGVS	NC_000012.11:g.110032849A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012704.16,