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rs747777227

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs747777227(-;-)
Make rs747777227(-;T)
Make rs747777227(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49457751
GeneMUT
is asnp
is mentioned by
dbSNPrs747777227
ebirs747777227
HLIrs747777227
Exacrs747777227
Varsomers747777227
Maprs747777227
PheGenIrs747777227
hapmaprs747777227
1000 genomesrs747777227
hgdprs747777227
ensemblrs747777227
gopubmedrs747777227
geneviewrs747777227
scholarrs747777227
googlers747777227
pharmgkbrs747777227
gwascentralrs747777227
openSNPrs747777227
23andMers747777227
23andMe allrs747777227
SNP Nexus

SNPshotrs747777227
SNPdbers747777227
MSV3drs747777227
GWAS Ctlgrs747777227
Max Magnitude0
ClinVar
Risk rs747777227(T;T)
Alt rs747777227(T;T)
Reference rs747777227(;)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 0
HGVS NC_000006.11:g.49425465dupT
CLNSRC
CLNACC RCV000235526.1,