rs118204045

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs118204045(A;A)

Make rs118204045(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149575775

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs118204045
dbSNP (classic)	rs118204045
ClinGen	rs118204045
ebi	rs118204045
HLI	rs118204045
Exac	rs118204045
Gnomad	rs118204045
Varsome	rs118204045
LitVar	rs118204045
Map	rs118204045
PheGenI	rs118204045
Biobank	rs118204045
1000 genomes	rs118204045
hgdp	rs118204045
ensembl	rs118204045
geneview	rs118204045
scholar	rs118204045
google	rs118204045
pharmgkb	rs118204045
gwascentral	rs118204045
openSNP	rs118204045
23andMe	rs118204045
SNPshot	rs118204045
SNPdbe	rs118204045
MSV3d	rs118204045
GWAS Ctlg	rs118204045

Max Magnitude

0

OMIM	611935
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118204045(A;A)
Alt	rs118204045(A;A)
Reference	Rs118204045(C;C)
Significance	Pathogenic
Disease	Homocystinuria
Variation	info
Gene	MMADHC
CLNDBN	Homocystinuria, cblD type, variant 1
Reversed	1
HGVS	NC_000002.11:g.150432289G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000798.3,