rs556977618

Orientation

plus

Stabilized

plus

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

Make rs556977618(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

45507550

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs556977618
dbSNP (classic)	rs556977618
ClinGen	rs556977618
ebi	rs556977618
HLI	rs556977618
Exac	rs556977618
Gnomad	rs556977618
Varsome	rs556977618
LitVar	rs556977618
Map	rs556977618
PheGenI	rs556977618
Biobank	rs556977618
1000 genomes	rs556977618
hgdp	rs556977618
ensembl	rs556977618
geneview	rs556977618
scholar	rs556977618
google	rs556977618
pharmgkb	rs556977618
gwascentral	rs556977618
openSNP	rs556977618
23andMe	rs556977618
SNPshot	rs556977618
SNPdbe	rs556977618
MSV3d	rs556977618
GWAS Ctlg	rs556977618

Max Magnitude

3

ClinVar
Risk	rs556977618(A;A) rs556977618(T;T)
Alt	rs556977618(A;A) rs556977618(T;T)
Reference	Rs556977618(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.45973222G>A; NC_000001.10:g.45973222G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148299.3, RCV000148298.3,