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rs201777056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201777056(C;C)
Make rs201777056(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74292623
GeneABCD4
is asnp
is mentioned by
dbSNPrs201777056
ebirs201777056
HLIrs201777056
Exacrs201777056
Varsomers201777056
Maprs201777056
PheGenIrs201777056
hapmaprs201777056
1000 genomesrs201777056
hgdprs201777056
ensemblrs201777056
gopubmedrs201777056
geneviewrs201777056
scholarrs201777056
googlers201777056
pharmgkbrs201777056
gwascentralrs201777056
openSNPrs201777056
23andMers201777056
23andMe allrs201777056
SNP Nexus

SNPshotrs201777056
SNPdbers201777056
MSV3drs201777056
GWAS Ctlgrs201777056
Max Magnitude0
ClinVar
Risk rs201777056(C;C)
Alt rs201777056(C;C)
Reference rs201777056(T;T)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA not provided
Variation info
Gene ABCD4
CLNDBN METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE not provided
Reversed 0
HGVS NC_000014.8:g.74759326T>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000030859.3, RCV000059785.1,


[PMID 22922874] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.