rs267606759

Orientation

plus

Stabilized

plus

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

Make rs267606759(G;T)

Make rs267606759(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

241751371

Gene

D2HGDH

is a	snp
is	mentioned by
dbSNP	rs267606759
dbSNP (classic)	rs267606759
ClinGen	rs267606759
ebi	rs267606759
HLI	rs267606759
Exac	rs267606759
Gnomad	rs267606759
Varsome	rs267606759
LitVar	rs267606759
Map	rs267606759
PheGenI	rs267606759
Biobank	rs267606759
1000 genomes	rs267606759
hgdp	rs267606759
ensembl	rs267606759
geneview	rs267606759
scholar	rs267606759
google	rs267606759
pharmgkb	rs267606759
gwascentral	rs267606759
openSNP	rs267606759
23andMe	rs267606759
SNPshot	rs267606759
SNPdbe	rs267606759
MSV3d	rs267606759
GWAS Ctlg	rs267606759

Max Magnitude

0

ClinVar
Risk	rs267606759(A;A) rs267606759(T;T)
Alt	rs267606759(A;A) rs267606759(T;T)
Reference	Rs267606759(G;G)
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.242690786G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001932.4,