rs398124296

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	8	methylmalonic aciduria, cblC type
(-;AAG)	3	Carrier of a methylmalonic aciduria type cblC mutation
(AAG;AAG)	0	common in clinvar
(AGA;AGA)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

45509024

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs398124296
dbSNP (classic)	rs398124296
ClinGen	rs398124296
ebi	rs398124296
HLI	rs398124296
Exac	rs398124296
Gnomad	rs398124296
Varsome	rs398124296
LitVar	rs398124296
Map	rs398124296
PheGenI	rs398124296
Biobank	rs398124296
1000 genomes	rs398124296
hgdp	rs398124296
ensembl	rs398124296
geneview	rs398124296
scholar	rs398124296
google	rs398124296
pharmgkb	rs398124296
gwascentral	rs398124296
openSNP	rs398124296
23andMe	rs398124296
SNPshot	rs398124296
SNPdbe	rs398124296
MSV3d	rs398124296
GWAS Ctlg	rs398124296

Max Magnitude

8

ClinVar
Risk	Rs398124296(-;-) Rs398124296(AGA;AGA)
Alt	Rs398124296(-;-) Rs398124296(AGA;AGA)
Reference	Rs398124296(AAG;AAG)
Significance	Pathogenic
Disease	not provided Methylmalonic acidemia with homocystinuria
Variation	info
Gene	MMACHC
CLNDBN	not provided Methylmalonic acidemia with homocystinuria
Reversed	0
HGVS	NC_000001.10:g.45974696_45974698delAAG
CLNSRC	HGMD
CLNACC	RCV000081744.5, RCV000272939.1,