rs118204046

Orientation

minus

Stabilized

minus

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

Make rs118204046(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149570119

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs118204046
dbSNP (classic)	rs118204046
ClinGen	rs118204046
ebi	rs118204046
HLI	rs118204046
Exac	rs118204046
Gnomad	rs118204046
Varsome	rs118204046
LitVar	rs118204046
Map	rs118204046
PheGenI	rs118204046
Biobank	rs118204046
1000 genomes	rs118204046
hgdp	rs118204046
ensembl	rs118204046
geneview	rs118204046
scholar	rs118204046
google	rs118204046
pharmgkb	rs118204046
gwascentral	rs118204046
openSNP	rs118204046
23andMe	rs118204046
SNPshot	rs118204046
SNPdbe	rs118204046
MSV3d	rs118204046
GWAS Ctlg	rs118204046

Max Magnitude

3

OMIM	611935
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118204046(G;G)
Alt	rs118204046(G;G)
Reference	Rs118204046(A;A)
Significance	Pathogenic
Disease	Homocystinuria
Variation	info
Gene	MMADHC
CLNDBN	Homocystinuria, cblD type, variant 1
Reversed	1
HGVS	NC_000002.11:g.150426633T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000799.5,