rs370596113

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

45508847

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs370596113
dbSNP (classic)	rs370596113
ClinGen	rs370596113
ebi	rs370596113
HLI	rs370596113
Exac	rs370596113
Gnomad	rs370596113
Varsome	rs370596113
LitVar	rs370596113
Map	rs370596113
PheGenI	rs370596113
Biobank	rs370596113
1000 genomes	rs370596113
hgdp	rs370596113
ensembl	rs370596113
geneview	rs370596113
scholar	rs370596113
google	rs370596113
pharmgkb	rs370596113
gwascentral	rs370596113
openSNP	rs370596113
23andMe	rs370596113
SNPshot	rs370596113
SNPdbe	rs370596113
MSV3d	rs370596113
GWAS Ctlg	rs370596113

Max Magnitude

8

ClinVar
Risk	rs370596113(A;A) Rs370596113(T;T)
Alt	rs370596113(A;A) Rs370596113(T;T)
Reference	Rs370596113(C;C)
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.45974519C>T
CLNSRC	HGMD
CLNACC	RCV000081739.5, RCV000340205.1,