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rs796051993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CTGA) 3 Carrier of a methylmalonic aciduria type cblA mutation
(CTGA;CTGA) 0 common in clinvar
(I;I) 0 common genotype
(TGAC;TGAC) 0 common in clinvar


Make rs796051993(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position145646016
GeneMMAA
is asnp
is mentioned by
dbSNPrs796051993
dbSNP (classic)rs796051993
ClinGenrs796051993
ebirs796051993
HLIrs796051993
Exacrs796051993
Gnomadrs796051993
Varsomers796051993
LitVarrs796051993
Maprs796051993
PheGenIrs796051993
Biobankrs796051993
1000 genomesrs796051993
hgdprs796051993
ensemblrs796051993
geneviewrs796051993
scholarrs796051993
googlers796051993
pharmgkbrs796051993
gwascentralrs796051993
openSNPrs796051993
23andMers796051993
SNPshotrs796051993
SNPdbers796051993
MSV3drs796051993
GWAS Ctlgrs796051993
Merged fromRs864309732
Max Magnitude3
ClinVar
Risk rs796051993(-;-) rs796051993(ACTG;ACTG) Rs796051993(TGAC;TGAC)
Alt rs796051993(-;-) rs796051993(ACTG;ACTG) Rs796051993(TGAC;TGAC)
Reference Rs796051993(CTGA;CTGA)
Significance Pathogenic
Disease not provided Methylmalonic aciduria cblA type
Variation info
Gene MMAA
CLNDBN not provided Methylmalonic aciduria cblA type
Reversed 0
HGVS NC_000004.11:g.146567168_146567171delCTGA
CLNSRC
CLNACC RCV000186013.1, RCV000203312.1,