rs118204020

Orientation

minus

Stabilized

minus

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

Make rs118204020(C;T)

Make rs118204020(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50269164

Gene

L2HGDH

is a	snp
is	mentioned by
dbSNP	rs118204020
dbSNP (classic)	rs118204020
ClinGen	rs118204020
ebi	rs118204020
HLI	rs118204020
Exac	rs118204020
Gnomad	rs118204020
Varsome	rs118204020
LitVar	rs118204020
Map	rs118204020
PheGenI	rs118204020
Biobank	rs118204020
1000 genomes	rs118204020
hgdp	rs118204020
ensembl	rs118204020
geneview	rs118204020
scholar	rs118204020
google	rs118204020
pharmgkb	rs118204020
gwascentral	rs118204020
openSNP	rs118204020
23andMe	rs118204020
SNPshot	rs118204020
SNPdbe	rs118204020
MSV3d	rs118204020
GWAS Ctlg	rs118204020

Max Magnitude

0

OMIM	609584
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118204020(T;T)
Alt	rs118204020(T;T)
Reference	Rs118204020(C;C)
Significance	Pathogenic
Disease	L-2-hydroxyglutaric aciduria
Variation	info
Gene	L2HGDH
CLNDBN	L-2-hydroxyglutaric aciduria
Reversed	1
HGVS	NC_000014.8:g.50735882G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001674.3,