rs864309742

Orientation

minus

Stabilized

minus

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

Make rs864309742(AT;AT)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

149582220

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs864309742
dbSNP (classic)	rs864309742
ClinGen	rs864309742
ebi	rs864309742
HLI	rs864309742
Exac	rs864309742
Gnomad	rs864309742
Varsome	rs864309742
LitVar	rs864309742
Map	rs864309742
PheGenI	rs864309742
Biobank	rs864309742
1000 genomes	rs864309742
hgdp	rs864309742
ensembl	rs864309742
geneview	rs864309742
scholar	rs864309742
google	rs864309742
pharmgkb	rs864309742
gwascentral	rs864309742
openSNP	rs864309742
23andMe	rs864309742
SNPshot	rs864309742
SNPdbe	rs864309742
MSV3d	rs864309742
GWAS Ctlg	rs864309742

Max Magnitude

3

ClinVar
Risk	rs864309742(AT;AT)
Alt	rs864309742(AT;AT)
Reference	Rs864309742(-;-)
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.150438734_150438735insAT
CLNSRC
CLNACC	RCV000203311.1,