rs864309743

Orientation

minus

Stabilized

minus

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

Make rs864309743(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

149576459

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs864309743
dbSNP (classic)	rs864309743
ClinGen	rs864309743
ebi	rs864309743
HLI	rs864309743
Exac	rs864309743
Gnomad	rs864309743
Varsome	rs864309743
LitVar	rs864309743
Map	rs864309743
PheGenI	rs864309743
Biobank	rs864309743
1000 genomes	rs864309743
hgdp	rs864309743
ensembl	rs864309743
geneview	rs864309743
scholar	rs864309743
google	rs864309743
pharmgkb	rs864309743
gwascentral	rs864309743
openSNP	rs864309743
23andMe	rs864309743
SNPshot	rs864309743
SNPdbe	rs864309743
MSV3d	rs864309743
GWAS Ctlg	rs864309743

Max Magnitude

3

ClinVar
Risk	rs864309743(C;C)
Alt	rs864309743(C;C)
Reference	Rs864309743(-;-)
Significance	Pathogenic
Disease	Methylmalonic acidemia with homocystinuria cblD
Variation	info
Gene	MMADHC
CLNDBN	Methylmalonic acidemia with homocystinuria cblD
Reversed	1
HGVS	NC_000002.11:g.150432974dupG
CLNSRC
CLNACC	RCV000203351.1,