rs587776889

Orientation

plus

Stabilized

plus

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

Make rs587776889(A;A)

Reference

GRCh38 38.1/142

Chromosome

1

Position

45508975

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs587776889
dbSNP (classic)	rs587776889
ClinGen	rs587776889
ebi	rs587776889
HLI	rs587776889
Exac	rs587776889
Gnomad	rs587776889
Varsome	rs587776889
LitVar	rs587776889
Map	rs587776889
PheGenI	rs587776889
Biobank	rs587776889
1000 genomes	rs587776889
hgdp	rs587776889
ensembl	rs587776889
geneview	rs587776889
scholar	rs587776889
google	rs587776889
pharmgkb	rs587776889
gwascentral	rs587776889
openSNP	rs587776889
23andMe	rs587776889
SNPshot	rs587776889
SNPdbe	rs587776889
MSV3d	rs587776889
GWAS Ctlg	rs587776889

Max Magnitude

3

ClinVar
Risk	rs587776889(A;A)
Alt	rs587776889(A;A)
Reference	Rs587776889(G;G)
Significance	Pathogenic
Disease	Methylmalonic acidemia with homocystinuria
Variation	info
Gene	MMACHC
CLNDBN	Methylmalonic acidemia with homocystinuria
Reversed	0
HGVS	NC_000001.10:g.45974647G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023785.2,