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rs9593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs9593(A;A)
Make rs9593(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109557065
GeneMMAB
is asnp
is mentioned by
dbSNPrs9593
dbSNP (classic)rs9593
ClinGenrs9593
ebirs9593
HLIrs9593
Exacrs9593
Gnomadrs9593
Varsomers9593
LitVarrs9593
Maprs9593
PheGenIrs9593
Biobankrs9593
1000 genomesrs9593
hgdprs9593
ensemblrs9593
geneviewrs9593
scholarrs9593
googlers9593
pharmgkbrs9593
gwascentralrs9593
openSNPrs9593
23andMers9593
SNPshotrs9593
SNPdbers9593
MSV3drs9593
GWAS Ctlgrs9593
GMAF0.4862
Max Magnitude0
? (A;A) (A;T) (T;T) 28





ClinVar
Risk rs9593(A;A) rs9593(C;C)
Alt rs9593(A;A) rs9593(C;C)
Reference Rs9593(T;T)
Significance Non-pathogenic
Disease not specified Methylmalonic acidemia
Variation info
Gene MMAB
CLNDBN not specified Methylmalonic acidemia
Reversed 1
HGVS NC_000012.11:g.109994870A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000082328.8, RCV000320735.1,



[PMID 29069827OA-icon.png] The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke.