rs369296618

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 rs369296618(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109557081

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs369296618
dbSNP (classic)	rs369296618
ClinGen	rs369296618
ebi	rs369296618
HLI	rs369296618
Exac	rs369296618
Gnomad	rs369296618
Varsome	rs369296618
LitVar	rs369296618
Map	rs369296618
PheGenI	rs369296618
Biobank	rs369296618
1000 genomes	rs369296618
hgdp	rs369296618
ensembl	rs369296618
geneview	rs369296618
scholar	rs369296618
google	rs369296618
pharmgkb	rs369296618
gwascentral	rs369296618
openSNP	rs369296618
23andMe	rs369296618
SNPshot	rs369296618
SNPdbe	rs369296618
MSV3d	rs369296618
GWAS Ctlg	rs369296618

Max Magnitude

3

aka c.700C>T (p.Gln234Ter)

ClinVar
Risk	rs369296618(A;A)
Alt	rs369296618(A;A)
Reference	Rs369296618(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.109994886G>A
CLNSRC
CLNACC	RCV000190603.1, RCV000420410.1,