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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
ebirs9593
HLIrs9593
Exacrs9593
Varsomers9593
Maprs9593
PheGenIrs9593
hapmaprs9593
1000 genomesrs9593
hgdprs9593
ensemblrs9593
gopubmedrs9593
geneviewrs9593
scholarrs9593
googlers9593
pharmgkbrs9593
gwascentralrs9593
openSNPrs9593
23andMers9593
23andMe allrs9593
SNP Nexus

SNPshotrs9593
SNPdbers9593
MSV3drs9593
GWAS Ctlgrs9593
GMAF0.4862
Max Magnitude0
? (A;A) (A;T) (T;T) 28


Venter snp
Source plos
Gene MMAB
allele T
frequency 0.5
sift TOLERATED
HuRef 1103649536812
Disease Association Defects in MMAB are the cause of methylmalonic aciduria linked to the cblB complementation group (MMAB) (MIM:251110); also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.



GET Evidence
MMAB-M239K
aa_change Met239Lys
aa_change_short M239K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.597974
summary



ClinVar
Risk rs9593(A;A)
Alt rs9593(A;A)
Reference rs9593(T;T)
Significance Pathogenic
Disease not specified Methylmalonic aciduria cblB type
Variation info
Gene MMAB
CLNDBN not specified Methylmalonic aciduria cblB type
Reversed 1
HGVS NC_000012.11:g.109994870A>T
CLNSRC ClinVar Emory University GeneDx
CLNACC RCV000082328.5, RCV000203401.1,