rs864309728

Orientation

plus

Stabilized

plus

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

Make rs864309728(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

145642426

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs864309728
dbSNP (classic)	rs864309728
ClinGen	rs864309728
ebi	rs864309728
HLI	rs864309728
Exac	rs864309728
Gnomad	rs864309728
Varsome	rs864309728
LitVar	rs864309728
Map	rs864309728
PheGenI	rs864309728
Biobank	rs864309728
1000 genomes	rs864309728
hgdp	rs864309728
ensembl	rs864309728
geneview	rs864309728
scholar	rs864309728
google	rs864309728
pharmgkb	rs864309728
gwascentral	rs864309728
openSNP	rs864309728
23andMe	rs864309728
SNPshot	rs864309728
SNPdbe	rs864309728
MSV3d	rs864309728
GWAS Ctlg	rs864309728

Max Magnitude

3

ClinVar
Risk	rs864309728(-;-)
Alt	rs864309728(-;-)
Reference	Rs864309728(C;C)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblA type
Variation	info
Gene	MMAA
CLNDBN	Methylmalonic aciduria cblA type
Reversed	0
HGVS	NC_000004.11:g.146563578delC
CLNSRC
CLNACC	RCV000203380.2,