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

rs869320657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 3 Carrier of a methylmalonic aciduria type cblA mutation


Make rs869320657(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position145655202
GeneMMAA
is asnp
is mentioned by
dbSNPrs869320657
dbSNP (classic)rs869320657
ClinGenrs869320657
ebirs869320657
HLIrs869320657
Exacrs869320657
Gnomadrs869320657
Varsomers869320657
LitVarrs869320657
Maprs869320657
PheGenIrs869320657
Biobankrs869320657
1000 genomesrs869320657
hgdprs869320657
ensemblrs869320657
geneviewrs869320657
scholarrs869320657
googlers869320657
pharmgkbrs869320657
gwascentralrs869320657
openSNPrs869320657
23andMers869320657
SNPshotrs869320657
SNPdbers869320657
MSV3drs869320657
GWAS Ctlgrs869320657
Max Magnitude3
ClinVar
Risk rs869320657(G;G)
Alt rs869320657(G;G)
Reference Rs869320657(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria cblA type
Variation info
Gene MMAA
CLNDBN Methylmalonic aciduria cblA type
Reversed 0
HGVS NC_000004.11:g.146576354T>G
CLNSRC
CLNACC RCV000210840.1,