rs118204047

Orientation

minus

Stabilized

minus

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

Make rs118204047(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149579643

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs118204047
dbSNP (classic)	rs118204047
ClinGen	rs118204047
ebi	rs118204047
HLI	rs118204047
Exac	rs118204047
Gnomad	rs118204047
Varsome	rs118204047
LitVar	rs118204047
Map	rs118204047
PheGenI	rs118204047
Biobank	rs118204047
1000 genomes	rs118204047
hgdp	rs118204047
ensembl	rs118204047
geneview	rs118204047
scholar	rs118204047
google	rs118204047
pharmgkb	rs118204047
gwascentral	rs118204047
openSNP	rs118204047
23andMe	rs118204047
SNPshot	rs118204047
SNPdbe	rs118204047
MSV3d	rs118204047
GWAS Ctlg	rs118204047

Max Magnitude

3

OMIM	611935
Desc
Variant	0005
Related	also

ClinVar
Risk	rs118204047(T;T)
Alt	rs118204047(T;T)
Reference	Rs118204047(C;C)
Significance	Pathogenic
Disease	Methylmalonic aciduria Methylmalonic acidemia with homocystinuria cblD
Variation	info
Gene	MMADHC
CLNDBN	Methylmalonic aciduria, cblD type, variant 2 Methylmalonic acidemia with homocystinuria cblD
Reversed	1
HGVS	NC_000002.11:g.150436157G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000801.4, RCV000203332.1,