rs398124434

Orientation

minus

Stabilized

minus

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

Make rs398124434(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109561056

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs398124434
dbSNP (classic)	rs398124434
ClinGen	rs398124434
ebi	rs398124434
HLI	rs398124434
Exac	rs398124434
Gnomad	rs398124434
Varsome	rs398124434
LitVar	rs398124434
Map	rs398124434
PheGenI	rs398124434
Biobank	rs398124434
1000 genomes	rs398124434
hgdp	rs398124434
ensembl	rs398124434
geneview	rs398124434
scholar	rs398124434
google	rs398124434
pharmgkb	rs398124434
gwascentral	rs398124434
openSNP	rs398124434
23andMe	rs398124434
SNPshot	rs398124434
SNPdbe	rs398124434
MSV3d	rs398124434
GWAS Ctlg	rs398124434

Max Magnitude

3

ClinVar
Risk	rs398124434(G;G) rs398124434(T;T)
Alt	rs398124434(G;G) rs398124434(T;T)
Reference	Rs398124434(C;C)
Significance	Pathogenic
Disease	not provided Methylmalonic aciduria cblB type
Variation	info
Gene	MMAB
CLNDBN	not provided Methylmalonic aciduria cblB type
Reversed	1
HGVS	NC_000012.11:g.109998861G>A; NC_000012.11:g.109998861G>C
CLNSRC	HGMD
CLNACC	RCV000082327.4, RCV000203347.1, RCV000324116.1,