rs796051993

Orientation

plus

Stabilized

plus

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(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

145646016

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs796051993
dbSNP (classic)	rs796051993
ClinGen	rs796051993
ebi	rs796051993
HLI	rs796051993
Exac	rs796051993
Gnomad	rs796051993
Varsome	rs796051993
LitVar	rs796051993
Map	rs796051993
PheGenI	rs796051993
Biobank	rs796051993
1000 genomes	rs796051993
hgdp	rs796051993
ensembl	rs796051993
geneview	rs796051993
scholar	rs796051993
google	rs796051993
pharmgkb	rs796051993
gwascentral	rs796051993
openSNP	rs796051993
23andMe	rs796051993
SNPshot	rs796051993
SNPdbe	rs796051993
MSV3d	rs796051993
GWAS Ctlg	rs796051993

Merged from

Rs864309732

Max Magnitude

3

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,