rs121908523

Orientation

plus

Stabilized

plus

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

Make rs121908523(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240868986

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs121908523
dbSNP (classic)	rs121908523
ClinGen	rs121908523
ebi	rs121908523
HLI	rs121908523
Exac	rs121908523
Gnomad	rs121908523
Varsome	rs121908523
LitVar	rs121908523
Map	rs121908523
PheGenI	rs121908523
Biobank	rs121908523
1000 genomes	rs121908523
hgdp	rs121908523
ensembl	rs121908523
geneview	rs121908523
scholar	rs121908523
google	rs121908523
pharmgkb	rs121908523
gwascentral	rs121908523
openSNP	rs121908523
23andMe	rs121908523
SNPshot	rs121908523
SNPdbe	rs121908523
MSV3d	rs121908523
GWAS Ctlg	rs121908523

Max Magnitude

0

aka c.121G>A (p.Gly41Arg)

OMIM	604285
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908523(A;A)
Alt	rs121908523(A;A)
Reference	Rs121908523(G;G)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241808403G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005998.4,