rs398124295

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

45508974

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs398124295
dbSNP (classic)	rs398124295
ClinGen	rs398124295
ebi	rs398124295
HLI	rs398124295
Exac	rs398124295
Gnomad	rs398124295
Varsome	rs398124295
LitVar	rs398124295
Map	rs398124295
PheGenI	rs398124295
Biobank	rs398124295
1000 genomes	rs398124295
hgdp	rs398124295
ensembl	rs398124295
geneview	rs398124295
scholar	rs398124295
google	rs398124295
pharmgkb	rs398124295
gwascentral	rs398124295
openSNP	rs398124295
23andMe	rs398124295
SNPshot	rs398124295
SNPdbe	rs398124295
MSV3d	rs398124295
GWAS Ctlg	rs398124295

Max Magnitude

8

ClinVar
Risk	Rs398124295(A;A)
Alt	Rs398124295(A;A)
Reference	Rs398124295(G;G)
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.45974646G>A
CLNSRC	HGMD
CLNACC	RCV000081743.4, RCV000383499.1,