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rs765547005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs765547005(C;C)
Make rs765547005(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109557125
GeneMMAB
is asnp
is mentioned by
dbSNPrs765547005
dbSNP (classic)rs765547005
ClinGenrs765547005
ebirs765547005
HLIrs765547005
Exacrs765547005
Gnomadrs765547005
Varsomers765547005
LitVarrs765547005
Maprs765547005
PheGenIrs765547005
Biobankrs765547005
1000 genomesrs765547005
hgdprs765547005
ensemblrs765547005
geneviewrs765547005
scholarrs765547005
googlers765547005
pharmgkbrs765547005
gwascentralrs765547005
openSNPrs765547005
23andMers765547005
SNPshotrs765547005
SNPdbers765547005
MSV3drs765547005
GWAS Ctlgrs765547005
Max Magnitude0
ClinVar
Risk rs765547005(C;C)
Alt rs765547005(C;C)
Reference Rs765547005(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria cblB type not specified
Variation info
Gene MMAB
CLNDBN Methylmalonic aciduria cblB type not specified
Reversed 0
HGVS NC_000012.11:g.109994930T>C
CLNSRC
CLNACC RCV000203386.1, RCV000424166.1,