rs786200869

Orientation

minus

Stabilized

minus

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

Make rs786200869(-;-)

Make rs786200869(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

50265439

Gene

L2HGDH

is a	snp
is	mentioned by
dbSNP	rs786200869
dbSNP (classic)	rs786200869
ClinGen	rs786200869
ebi	rs786200869
HLI	rs786200869
Exac	rs786200869
Gnomad	rs786200869
Varsome	rs786200869
LitVar	rs786200869
Map	rs786200869
PheGenI	rs786200869
Biobank	rs786200869
1000 genomes	rs786200869
hgdp	rs786200869
ensembl	rs786200869
geneview	rs786200869
scholar	rs786200869
google	rs786200869
pharmgkb	rs786200869
gwascentral	rs786200869
openSNP	rs786200869
23andMe	rs786200869
SNPshot	rs786200869
SNPdbe	rs786200869
MSV3d	rs786200869
GWAS Ctlg	rs786200869

Max Magnitude

0

ClinVar
Risk	rs786200869(-;-)
Alt	rs786200869(-;-)
Reference	Rs786200869(T;T)
Significance	Pathogenic
Disease	L-2-hydroxyglutaric aciduria
Variation	info
Gene	L2HGDH
CLNDBN	L-2-hydroxyglutaric aciduria
Reversed	1
HGVS	NC_000014.8:g.50732157delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001675.3,