rs864309727

Orientation

plus

Stabilized

plus

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

Make rs864309727(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

145639497

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs864309727
dbSNP (classic)	rs864309727
ClinGen	rs864309727
ebi	rs864309727
HLI	rs864309727
Exac	rs864309727
Gnomad	rs864309727
Varsome	rs864309727
LitVar	rs864309727
Map	rs864309727
PheGenI	rs864309727
Biobank	rs864309727
1000 genomes	rs864309727
hgdp	rs864309727
ensembl	rs864309727
geneview	rs864309727
scholar	rs864309727
google	rs864309727
pharmgkb	rs864309727
gwascentral	rs864309727
openSNP	rs864309727
23andMe	rs864309727
SNPshot	rs864309727
SNPdbe	rs864309727
MSV3d	rs864309727
GWAS Ctlg	rs864309727

Max Magnitude

3

ClinVar
Risk	rs864309727(T;T)
Alt	rs864309727(T;T)
Reference	Rs864309727(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.146560649C>T
CLNSRC
CLNACC	RCV000203366.1,