rs397509363

Orientation

minus

Stabilized

minus

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

Make rs397509363(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149576495

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs397509363
dbSNP (classic)	rs397509363
ClinGen	rs397509363
ebi	rs397509363
HLI	rs397509363
Exac	rs397509363
Gnomad	rs397509363
Varsome	rs397509363
LitVar	rs397509363
Map	rs397509363
PheGenI	rs397509363
Biobank	rs397509363
1000 genomes	rs397509363
hgdp	rs397509363
ensembl	rs397509363
geneview	rs397509363
scholar	rs397509363
google	rs397509363
pharmgkb	rs397509363
gwascentral	rs397509363
openSNP	rs397509363
23andMe	rs397509363
SNPshot	rs397509363
SNPdbe	rs397509363
MSV3d	rs397509363
GWAS Ctlg	rs397509363

Max Magnitude

3

ClinVar
Risk	rs397509363(A;A)
Alt	rs397509363(A;A)
Reference	Rs397509363(-;-)
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.150433010dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000804.3,