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rs754545360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a methylmalonic aciduria type cblA mutation
Make rs754545360(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position145639536
GeneMMAA
is asnp
is mentioned by
dbSNPrs754545360
dbSNP (classic)rs754545360
ClinGenrs754545360
ebirs754545360
HLIrs754545360
Exacrs754545360
Gnomadrs754545360
Varsomers754545360
LitVarrs754545360
Maprs754545360
PheGenIrs754545360
Biobankrs754545360
1000 genomesrs754545360
hgdprs754545360
ensemblrs754545360
geneviewrs754545360
scholarrs754545360
googlers754545360
pharmgkbrs754545360
gwascentralrs754545360
openSNPrs754545360
23andMers754545360
SNPshotrs754545360
SNPdbers754545360
MSV3drs754545360
GWAS Ctlgrs754545360
Max Magnitude3
ClinVar
Risk rs754545360(T;T)
Alt rs754545360(T;T)
Reference Rs754545360(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria cblA type
Variation info
Gene MMAA
CLNDBN Methylmalonic aciduria cblA type
Reversed 0
HGVS NC_000004.11:g.146560688C>T
CLNSRC
CLNACC RCV000203403.1,