rs121434360

Orientation

plus

Stabilized

plus

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

Make rs121434360(C;C)

Make rs121434360(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

241767734

Gene

D2HGDH

is a	snp
is	mentioned by
dbSNP	rs121434360
dbSNP (classic)	rs121434360
ClinGen	rs121434360
ebi	rs121434360
HLI	rs121434360
Exac	rs121434360
Gnomad	rs121434360
Varsome	rs121434360
LitVar	rs121434360
Map	rs121434360
PheGenI	rs121434360
Biobank	rs121434360
1000 genomes	rs121434360
hgdp	rs121434360
ensembl	rs121434360
geneview	rs121434360
scholar	rs121434360
google	rs121434360
pharmgkb	rs121434360
gwascentral	rs121434360
openSNP	rs121434360
23andMe	rs121434360
SNPshot	rs121434360
SNPdbe	rs121434360
MSV3d	rs121434360
GWAS Ctlg	rs121434360

Max Magnitude

0

OMIM	609186
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434360(C;C)
Alt	rs121434360(C;C)
Reference	Rs121434360(T;T)
Significance	Pathogenic
Disease	D-2-hydroxyglutaric aciduria 1
Variation	info
Gene	D2HGDH
CLNDBN	D-2-hydroxyglutaric aciduria 1
Reversed	0
HGVS	NC_000002.11:g.242707149T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001926.3,