rs397509361

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CTCTTTAG;CTCTTTAG)	0	common in clinvar

Make rs397509361(-;-)

Make rs397509361(-;CTCTTTAG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149582217

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs397509361
dbSNP (classic)	rs397509361
ClinGen	rs397509361
ebi	rs397509361
HLI	rs397509361
Exac	rs397509361
Gnomad	rs397509361
Varsome	rs397509361
LitVar	rs397509361
Map	rs397509361
PheGenI	rs397509361
Biobank	rs397509361
1000 genomes	rs397509361
hgdp	rs397509361
ensembl	rs397509361
geneview	rs397509361
scholar	rs397509361
google	rs397509361
pharmgkb	rs397509361
gwascentral	rs397509361
openSNP	rs397509361
23andMe	rs397509361
SNPshot	rs397509361
SNPdbe	rs397509361
MSV3d	rs397509361
GWAS Ctlg	rs397509361

Max Magnitude

0

ClinVar
Risk	rs397509361(-;-)
Alt	rs397509361(-;-)
Reference	Rs397509361(CTCTTTAG;CTCTTTAG)
Significance	Pathogenic
Disease	Methylmalonic aciduria Methylmalonic acidemia with homocystinuria cblD
Variation	info
Gene	MMADHC
CLNDBN	Methylmalonic aciduria, cblD type, variant 2 Methylmalonic acidemia with homocystinuria cblD
Reversed	1
HGVS	NC_000002.11:g.150438731_150438738delCTAAAGAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000800.5, RCV000203371.1,