rs199971687

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 rs199971687(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109565177

Gene

MMAB

is a	snp
is	mentioned by
dbSNP	rs199971687
dbSNP (classic)	rs199971687
ClinGen	rs199971687
ebi	rs199971687
HLI	rs199971687
Exac	rs199971687
Gnomad	rs199971687
Varsome	rs199971687
LitVar	rs199971687
Map	rs199971687
PheGenI	rs199971687
Biobank	rs199971687
1000 genomes	rs199971687
hgdp	rs199971687
ensembl	rs199971687
geneview	rs199971687
scholar	rs199971687
google	rs199971687
pharmgkb	rs199971687
gwascentral	rs199971687
openSNP	rs199971687
23andMe	rs199971687
SNPshot	rs199971687
SNPdbe	rs199971687
MSV3d	rs199971687
GWAS Ctlg	rs199971687

Max Magnitude

3

ClinVar
Risk	rs199971687(T;T)
Alt	rs199971687(T;T)
Reference	Rs199971687(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.110002982C>T
CLNSRC
CLNACC	RCV000203348.1,