rs797045507

Orientation

plus

Stabilized

plus

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

Make rs797045507(C;C)

Make rs797045507(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

241756016

Gene

D2HGDH

is a	snp
is	mentioned by
dbSNP	rs797045507
dbSNP (classic)	rs797045507
ClinGen	rs797045507
ebi	rs797045507
HLI	rs797045507
Exac	rs797045507
Gnomad	rs797045507
Varsome	rs797045507
LitVar	rs797045507
Map	rs797045507
PheGenI	rs797045507
Biobank	rs797045507
1000 genomes	rs797045507
hgdp	rs797045507
ensembl	rs797045507
geneview	rs797045507
scholar	rs797045507
google	rs797045507
pharmgkb	rs797045507
gwascentral	rs797045507
openSNP	rs797045507
23andMe	rs797045507
SNPshot	rs797045507
SNPdbe	rs797045507
MSV3d	rs797045507
GWAS Ctlg	rs797045507

Max Magnitude

0

ClinVar
Risk	rs797045507(C;C)
Alt	rs797045507(C;C)
Reference	Rs797045507(T;T)
Significance	Probable-Pathogenic
Disease	D-2-hydroxyglutaric aciduria
Variation	info
Gene	D2HGDH
CLNDBN	D-2-hydroxyglutaric aciduria
Reversed	0
HGVS	NC_000002.11:g.242695431T>C
CLNSRC
CLNACC	RCV000192863.1,