rs864309512

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;CCG)	3	Carrier of a methylmalonic aciduria type cblB mutation
(D;D)	0	common genotype

Make rs864309512(CCG;CCG)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109561051

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs864309512
dbSNP (classic)	rs864309512
ClinGen	rs864309512
ebi	rs864309512
HLI	rs864309512
Exac	rs864309512
Gnomad	rs864309512
Varsome	rs864309512
LitVar	rs864309512
Map	rs864309512
PheGenI	rs864309512
Biobank	rs864309512
1000 genomes	rs864309512
hgdp	rs864309512
ensembl	rs864309512
geneview	rs864309512
scholar	rs864309512
google	rs864309512
pharmgkb	rs864309512
gwascentral	rs864309512
openSNP	rs864309512
23andMe	rs864309512
SNPshot	rs864309512
SNPdbe	rs864309512
MSV3d	rs864309512
GWAS Ctlg	rs864309512

Max Magnitude

3

ClinVar
Risk	rs864309512(CCG;CCG)
Alt	rs864309512(CCG;CCG)
Reference	Rs864309512(-;-)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblB type
Variation	info
Gene	MMAB
CLNDBN	Methylmalonic aciduria cblB type
Reversed	1
HGVS	NC_000012.11:g.109998857_109998859dupCGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202602.2,