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rs756414548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756414548(C;T)
Make rs756414548(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109561055
GeneMMAB
is asnp
is mentioned by
dbSNPrs756414548
dbSNP (classic)rs756414548
ClinGenrs756414548
ebirs756414548
HLIrs756414548
Exacrs756414548
Gnomadrs756414548
Varsomers756414548
LitVarrs756414548
Maprs756414548
PheGenIrs756414548
Biobankrs756414548
1000 genomesrs756414548
hgdprs756414548
ensemblrs756414548
geneviewrs756414548
scholarrs756414548
googlers756414548
pharmgkbrs756414548
gwascentralrs756414548
openSNPrs756414548
23andMers756414548
SNPshotrs756414548
SNPdbers756414548
MSV3drs756414548
GWAS Ctlgrs756414548
Max Magnitude0
ClinVar
Risk rs756414548(T;T)
Alt rs756414548(T;T)
Reference Rs756414548(C;C)
Significance Pathogenic
Disease not provided Methylmalonic aciduria cblB type
Variation info
Gene MMAB
CLNDBN not provided Methylmalonic aciduria cblB type
Reversed 0
HGVS NC_000012.11:g.109998860C>T
CLNSRC
CLNACC RCV000186018.2, RCV000203392.1,