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

rs765799472

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 rs765799472(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position145639203
GeneMMAA
is asnp
is mentioned by
dbSNPrs765799472
dbSNP (classic)rs765799472
ClinGenrs765799472
ebirs765799472
HLIrs765799472
Exacrs765799472
Gnomadrs765799472
Varsomers765799472
LitVarrs765799472
Maprs765799472
PheGenIrs765799472
Biobankrs765799472
1000 genomesrs765799472
hgdprs765799472
ensemblrs765799472
geneviewrs765799472
scholarrs765799472
googlers765799472
pharmgkbrs765799472
gwascentralrs765799472
openSNPrs765799472
23andMers765799472
SNPshotrs765799472
SNPdbers765799472
MSV3drs765799472
GWAS Ctlgrs765799472
Max Magnitude3
ClinVar
Risk rs765799472(T;T)
Alt rs765799472(T;T)
Reference Rs765799472(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria cblA type not provided
Variation info
Gene MMAA
CLNDBN Methylmalonic aciduria cblA type not provided
Reversed 0
HGVS NC_000004.11:g.146560355C>T
CLNSRC
CLNACC RCV000203329.1, RCV000488986.1,