rs376128990

Orientation

plus

Stabilized

plus

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

Make rs376128990(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109561053

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs376128990
dbSNP (classic)	rs376128990
ClinGen	rs376128990
ebi	rs376128990
HLI	rs376128990
Exac	rs376128990
Gnomad	rs376128990
Varsome	rs376128990
LitVar	rs376128990
Map	rs376128990
PheGenI	rs376128990
Biobank	rs376128990
1000 genomes	rs376128990
hgdp	rs376128990
ensembl	rs376128990
geneview	rs376128990
scholar	rs376128990
google	rs376128990
pharmgkb	rs376128990
gwascentral	rs376128990
openSNP	rs376128990
23andMe	rs376128990
SNPshot	rs376128990
SNPdbe	rs376128990
MSV3d	rs376128990
GWAS Ctlg	rs376128990

Max Magnitude

3

ClinVar
Risk	rs376128990(A;A)
Alt	rs376128990(A;A)
Reference	Rs376128990(G;G)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblB type not provided
Variation	info
Gene	MMAB
CLNDBN	Methylmalonic aciduria cblB type not provided
Reversed	0
HGVS	NC_000012.11:g.109998858G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000202597.3, RCV000414492.1,