rs864309730

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a methylmalonic aciduria type cblA mutation
(G;G)	0	common in clinvar

Make rs864309730(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

145646076

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs864309730
dbSNP (classic)	rs864309730
ClinGen	rs864309730
ebi	rs864309730
HLI	rs864309730
Exac	rs864309730
Gnomad	rs864309730
Varsome	rs864309730
LitVar	rs864309730
Map	rs864309730
PheGenI	rs864309730
Biobank	rs864309730
1000 genomes	rs864309730
hgdp	rs864309730
ensembl	rs864309730
geneview	rs864309730
scholar	rs864309730
google	rs864309730
pharmgkb	rs864309730
gwascentral	rs864309730
openSNP	rs864309730
23andMe	rs864309730
SNPshot	rs864309730
SNPdbe	rs864309730
MSV3d	rs864309730
GWAS Ctlg	rs864309730

Max Magnitude

3

ClinVar
Risk	rs864309730(A;A)
Alt	rs864309730(A;A)
Reference	Rs864309730(G;G)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblA type
Variation	info
Gene	MMAA
CLNDBN	Methylmalonic aciduria cblA type
Reversed	0
HGVS	NC_000004.11:g.146567228G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203378.1,