rs864309741

Orientation

minus

Stabilized

minus

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

Make rs864309741(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

149579574

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs864309741
dbSNP (classic)	rs864309741
ClinGen	rs864309741
ebi	rs864309741
HLI	rs864309741
Exac	rs864309741
Gnomad	rs864309741
Varsome	rs864309741
LitVar	rs864309741
Map	rs864309741
PheGenI	rs864309741
Biobank	rs864309741
1000 genomes	rs864309741
hgdp	rs864309741
ensembl	rs864309741
geneview	rs864309741
scholar	rs864309741
google	rs864309741
pharmgkb	rs864309741
gwascentral	rs864309741
openSNP	rs864309741
23andMe	rs864309741
SNPshot	rs864309741
SNPdbe	rs864309741
MSV3d	rs864309741
GWAS Ctlg	rs864309741

Max Magnitude

3

ClinVar
Risk	rs864309741(G;G)
Alt	rs864309741(G;G)
Reference	Rs864309741(-;-)
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.150436089dupC
CLNSRC
CLNACC	RCV000203370.2,