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rs28941784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28941784(C;T)
Make rs28941784(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109561068
GeneMMAB
is asnp
is mentioned by
dbSNPrs28941784
ebirs28941784
HLIrs28941784
Exacrs28941784
Varsomers28941784
Maprs28941784
PheGenIrs28941784
hapmaprs28941784
1000 genomesrs28941784
hgdprs28941784
ensemblrs28941784
gopubmedrs28941784
geneviewrs28941784
scholarrs28941784
googlers28941784
pharmgkbrs28941784
gwascentralrs28941784
openSNPrs28941784
23andMers28941784
23andMe allrs28941784
SNP Nexus

SNPshotrs28941784
SNPdbers28941784
MSV3drs28941784
GWAS Ctlgrs28941784
Max Magnitude0
OMIM607568
DescMETHYLMALONIC ACIDURIA, cblB TYPE
Variant0001
Relatedalso


ClinVar
Risk rs28941784(T;T)
Alt rs28941784(T;T)
Reference Rs28941784(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria cblB type not provided
Variation info
Gene MMAB
CLNDBN Methylmalonic aciduria cblB type not provided
Reversed 1
HGVS NC_000012.11:g.109998873G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003241.3, RCV000186017.2,