rs869320654

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	3	Carrier of a methylmalonic aciduria type cblB mutation

Make rs869320654(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

109561061

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs869320654
dbSNP (classic)	rs869320654
ClinGen	rs869320654
ebi	rs869320654
HLI	rs869320654
Exac	rs869320654
Gnomad	rs869320654
Varsome	rs869320654
LitVar	rs869320654
Map	rs869320654
PheGenI	rs869320654
Biobank	rs869320654
1000 genomes	rs869320654
hgdp	rs869320654
ensembl	rs869320654
geneview	rs869320654
scholar	rs869320654
google	rs869320654
pharmgkb	rs869320654
gwascentral	rs869320654
openSNP	rs869320654
23andMe	rs869320654
SNPshot	rs869320654
SNPdbe	rs869320654
MSV3d	rs869320654
GWAS Ctlg	rs869320654

Max Magnitude

3

ClinVar
Risk	rs869320654(G;G)
Alt	rs869320654(G;G)
Reference	Rs869320654(T;T)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblB type
Variation	info
Gene	MMAB
CLNDBN	Methylmalonic aciduria cblB type
Reversed	1
HGVS	NC_000012.11:g.109998866A>C
CLNSRC
CLNACC	RCV000210838.1,