rs864309740

Orientation

minus

Stabilized

minus

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

Make rs864309740(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

149582147

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs864309740
dbSNP (classic)	rs864309740
ClinGen	rs864309740
ebi	rs864309740
HLI	rs864309740
Exac	rs864309740
Gnomad	rs864309740
Varsome	rs864309740
LitVar	rs864309740
Map	rs864309740
PheGenI	rs864309740
Biobank	rs864309740
1000 genomes	rs864309740
hgdp	rs864309740
ensembl	rs864309740
geneview	rs864309740
scholar	rs864309740
google	rs864309740
pharmgkb	rs864309740
gwascentral	rs864309740
openSNP	rs864309740
23andMe	rs864309740
SNPshot	rs864309740
SNPdbe	rs864309740
MSV3d	rs864309740
GWAS Ctlg	rs864309740

Max Magnitude

3

ClinVar
Risk	rs864309740(G;G)
Alt	rs864309740(G;G)
Reference	Rs864309740(-;-)
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.150438662dupC
CLNSRC
CLNACC	RCV000203409.2,