rs267607206

Orientation

minus

Stabilized

minus

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

Make rs267607206(A;G)

Make rs267607206(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50302132

Gene

L2HGDH

is a	snp
is	mentioned by
dbSNP	rs267607206
dbSNP (classic)	rs267607206
ClinGen	rs267607206
ebi	rs267607206
HLI	rs267607206
Exac	rs267607206
Gnomad	rs267607206
Varsome	rs267607206
LitVar	rs267607206
Map	rs267607206
PheGenI	rs267607206
Biobank	rs267607206
1000 genomes	rs267607206
hgdp	rs267607206
ensembl	rs267607206
geneview	rs267607206
scholar	rs267607206
google	rs267607206
pharmgkb	rs267607206
gwascentral	rs267607206
openSNP	rs267607206
23andMe	rs267607206
SNPshot	rs267607206
SNPdbe	rs267607206
MSV3d	rs267607206
GWAS Ctlg	rs267607206

Max Magnitude

0

ClinVar
Risk	rs267607206(G;G) rs267607206(T;T)
Alt	rs267607206(G;G) rs267607206(T;T)
Reference	Rs267607206(A;A)
Significance	Pathogenic
Disease	L-2-hydroxyglutaric aciduria
Variation	info
Gene	L2HGDH
CLNDBN	L-2-hydroxyglutaric aciduria
Reversed	1
HGVS	NC_000014.8:g.50768850T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001679.3,