Have questions? Visit https://www.reddit.com/r/SNPedia

rs727504020

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504020(C;T)
Make rs727504020(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position49451591
GeneMUT
is asnp
is mentioned by
dbSNPrs727504020
ebirs727504020
HLIrs727504020
Exacrs727504020
Varsomers727504020
Maprs727504020
PheGenIrs727504020
hapmaprs727504020
1000 genomesrs727504020
hgdprs727504020
ensemblrs727504020
gopubmedrs727504020
geneviewrs727504020
scholarrs727504020
googlers727504020
pharmgkbrs727504020
gwascentralrs727504020
openSNPrs727504020
23andMers727504020
23andMe allrs727504020
SNP Nexus

SNPshotrs727504020
SNPdbers727504020
MSV3drs727504020
GWAS Ctlgrs727504020
Max Magnitude0
ClinVar
Risk rs727504020(G,T;G,T)
Alt rs727504020(G,T;G,T)
Reference rs727504020(C;C)
Significance Pathogenic
Disease not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49419304G>A
CLNSRC HGMD
CLNACC RCV000153520.2, RCV000179277.2,