rs118204044

Orientation

minus

Stabilized

minus

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

Make rs118204044(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149570089

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs118204044
dbSNP (classic)	rs118204044
ClinGen	rs118204044
ebi	rs118204044
HLI	rs118204044
Exac	rs118204044
Gnomad	rs118204044
Varsome	rs118204044
LitVar	rs118204044
Map	rs118204044
PheGenI	rs118204044
Biobank	rs118204044
1000 genomes	rs118204044
hgdp	rs118204044
ensembl	rs118204044
geneview	rs118204044
scholar	rs118204044
google	rs118204044
pharmgkb	rs118204044
gwascentral	rs118204044
openSNP	rs118204044
23andMe	rs118204044
SNPshot	rs118204044
SNPdbe	rs118204044
MSV3d	rs118204044
GWAS Ctlg	rs118204044

Max Magnitude

3

OMIM	611935
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118204044(C;C)
Alt	rs118204044(C;C)
Reference	Rs118204044(T;T)
Significance	Pathogenic
Disease	Homocystinuria
Variation	info
Gene	MMADHC
CLNDBN	Homocystinuria, cblD type, variant 1
Reversed	1
HGVS	NC_000002.11:g.150426603A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000797.3,