rs756195708

Orientation

plus

Stabilized

plus

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

Make rs756195708(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109561040

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs756195708
dbSNP (classic)	rs756195708
ClinGen	rs756195708
ebi	rs756195708
HLI	rs756195708
Exac	rs756195708
Gnomad	rs756195708
Varsome	rs756195708
LitVar	rs756195708
Map	rs756195708
PheGenI	rs756195708
Biobank	rs756195708
1000 genomes	rs756195708
hgdp	rs756195708
ensembl	rs756195708
geneview	rs756195708
scholar	rs756195708
google	rs756195708
pharmgkb	rs756195708
gwascentral	rs756195708
openSNP	rs756195708
23andMe	rs756195708
SNPshot	rs756195708
SNPdbe	rs756195708
MSV3d	rs756195708
GWAS Ctlg	rs756195708

Max Magnitude

3

ClinVar
Risk	rs756195708(T;T)
Alt	rs756195708(T;T)
Reference	Rs756195708(C;C)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblB type
Variation	info
Gene	MMAB
CLNDBN	Methylmalonic aciduria cblB type
Reversed	0
HGVS	NC_000012.11:g.109998845C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202574.2,