rs397509364

Orientation

minus

Stabilized

minus

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

Make rs397509364(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149571079

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs397509364
dbSNP (classic)	rs397509364
ClinGen	rs397509364
ebi	rs397509364
HLI	rs397509364
Exac	rs397509364
Gnomad	rs397509364
Varsome	rs397509364
LitVar	rs397509364
Map	rs397509364
PheGenI	rs397509364
Biobank	rs397509364
1000 genomes	rs397509364
hgdp	rs397509364
ensembl	rs397509364
geneview	rs397509364
scholar	rs397509364
google	rs397509364
pharmgkb	rs397509364
gwascentral	rs397509364
openSNP	rs397509364
23andMe	rs397509364
SNPshot	rs397509364
SNPdbe	rs397509364
MSV3d	rs397509364
GWAS Ctlg	rs397509364

Max Magnitude

3

ClinVar
Risk	rs397509364(-;-)
Alt	rs397509364(-;-)
Reference	Rs397509364(GAGT;GAGT)
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.150427593_150427596delACTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000805.3,