rs864309509

Orientation

minus

Stabilized

minus

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

Make rs864309509(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109568773

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs864309509
dbSNP (classic)	rs864309509
ClinGen	rs864309509
ebi	rs864309509
HLI	rs864309509
Exac	rs864309509
Gnomad	rs864309509
Varsome	rs864309509
LitVar	rs864309509
Map	rs864309509
PheGenI	rs864309509
Biobank	rs864309509
1000 genomes	rs864309509
hgdp	rs864309509
ensembl	rs864309509
geneview	rs864309509
scholar	rs864309509
google	rs864309509
pharmgkb	rs864309509
gwascentral	rs864309509
openSNP	rs864309509
23andMe	rs864309509
SNPshot	rs864309509
SNPdbe	rs864309509
MSV3d	rs864309509
GWAS Ctlg	rs864309509

Max Magnitude

3

ClinVar
Risk	rs864309509(C;C)
Alt	rs864309509(C;C)
Reference	Rs864309509(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.110006578A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000202588.2,