Have questions? Visit https://www.reddit.com/r/SNPedia

rs864309727

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 rs864309727(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position145639497
GeneMMAA
is asnp
is mentioned by
dbSNPrs864309727
dbSNP (classic)rs864309727
ClinGenrs864309727
ebirs864309727
HLIrs864309727
Exacrs864309727
Gnomadrs864309727
Varsomers864309727
LitVarrs864309727
Maprs864309727
PheGenIrs864309727
Biobankrs864309727
1000 genomesrs864309727
hgdprs864309727
ensemblrs864309727
geneviewrs864309727
scholarrs864309727
googlers864309727
pharmgkbrs864309727
gwascentralrs864309727
openSNPrs864309727
23andMers864309727
SNPshotrs864309727
SNPdbers864309727
MSV3drs864309727
GWAS Ctlgrs864309727
Max Magnitude3
ClinVar
Risk rs864309727(T;T)
Alt rs864309727(T;T)
Reference Rs864309727(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.146560649C>T
CLNSRC
CLNACC RCV000203366.1,