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rs121917789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917789(A;C)
Make rs121917789(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position109595044
GeneMVK
is asnp
is mentioned by
dbSNPrs121917789
ClinGenrs121917789
ebirs121917789
HLIrs121917789
Exacrs121917789
Varsomers121917789
Maprs121917789
PheGenIrs121917789
hapmaprs121917789
1000 genomesrs121917789
hgdprs121917789
ensemblrs121917789
gopubmedrs121917789
geneviewrs121917789
scholarrs121917789
googlers121917789
pharmgkbrs121917789
gwascentralrs121917789
openSNPrs121917789
23andMers121917789
23andMe allrs121917789
SNP Nexus

SNPshotrs121917789
SNPdbers121917789
MSV3drs121917789
GWAS Ctlgrs121917789
Merged fromRs28934896
Max Magnitude0
OMIM251170
Desc
Variant0001
Relatedalso
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,