rs118204048

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 rs118204048(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149570117

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs118204048
dbSNP (classic)	rs118204048
ClinGen	rs118204048
ebi	rs118204048
HLI	rs118204048
Exac	rs118204048
Gnomad	rs118204048
Varsome	rs118204048
LitVar	rs118204048
Map	rs118204048
PheGenI	rs118204048
Biobank	rs118204048
1000 genomes	rs118204048
hgdp	rs118204048
ensembl	rs118204048
geneview	rs118204048
scholar	rs118204048
google	rs118204048
pharmgkb	rs118204048
gwascentral	rs118204048
openSNP	rs118204048
23andMe	rs118204048
SNPshot	rs118204048
SNPdbe	rs118204048
MSV3d	rs118204048
GWAS Ctlg	rs118204048

Max Magnitude

3

OMIM	611935
Desc
Variant	0007
Related	also

ClinVar
Risk	rs118204048(T;T)
Alt	rs118204048(T;T)
Reference	Rs118204048(C;C)
Significance	Pathogenic
Disease	Methylmalonic acidemia with homocystinuria cblD
Variation	info
Gene	MMADHC
CLNDBN	Methylmalonic acidemia with homocystinuria cblD
Reversed	1
HGVS	NC_000002.11:g.150426631G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000803.3,