rs864309725

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 rs864309725(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

145639300

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs864309725
dbSNP (classic)	rs864309725
ClinGen	rs864309725
ebi	rs864309725
HLI	rs864309725
Exac	rs864309725
Gnomad	rs864309725
Varsome	rs864309725
LitVar	rs864309725
Map	rs864309725
PheGenI	rs864309725
Biobank	rs864309725
1000 genomes	rs864309725
hgdp	rs864309725
ensembl	rs864309725
geneview	rs864309725
scholar	rs864309725
google	rs864309725
pharmgkb	rs864309725
gwascentral	rs864309725
openSNP	rs864309725
23andMe	rs864309725
SNPshot	rs864309725
SNPdbe	rs864309725
MSV3d	rs864309725
GWAS Ctlg	rs864309725

Max Magnitude

3

ClinVar
Risk	rs864309725(A;A)
Alt	rs864309725(A;A)
Reference	Rs864309725(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.146560452G>A
CLNSRC
CLNACC	RCV000203357.1,