rs864309726

Orientation

plus

Stabilized

plus

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

Make rs864309726(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

145639405

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs864309726
dbSNP (classic)	rs864309726
ClinGen	rs864309726
ebi	rs864309726
HLI	rs864309726
Exac	rs864309726
Gnomad	rs864309726
Varsome	rs864309726
LitVar	rs864309726
Map	rs864309726
PheGenI	rs864309726
Biobank	rs864309726
1000 genomes	rs864309726
hgdp	rs864309726
ensembl	rs864309726
geneview	rs864309726
scholar	rs864309726
google	rs864309726
pharmgkb	rs864309726
gwascentral	rs864309726
openSNP	rs864309726
23andMe	rs864309726
SNPshot	rs864309726
SNPdbe	rs864309726
MSV3d	rs864309726
GWAS Ctlg	rs864309726

Max Magnitude

3

ClinVar
Risk	rs864309726(C;C)
Alt	rs864309726(C;C)
Reference	Rs864309726(T;T)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblA type
Variation	info
Gene	MMAA
CLNDBN	Methylmalonic aciduria cblA type
Reversed	0
HGVS	NC_000004.11:g.146560557T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203404.1,