rs121908530

Orientation

plus

Stabilized

plus

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

Make rs121908530(A;A)

Make rs121908530(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240871391

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs121908530
dbSNP (classic)	rs121908530
ClinGen	rs121908530
ebi	rs121908530
HLI	rs121908530
Exac	rs121908530
Gnomad	rs121908530
Varsome	rs121908530
LitVar	rs121908530
Map	rs121908530
PheGenI	rs121908530
Biobank	rs121908530
1000 genomes	rs121908530
hgdp	rs121908530
ensembl	rs121908530
geneview	rs121908530
scholar	rs121908530
google	rs121908530
pharmgkb	rs121908530
gwascentral	rs121908530
openSNP	rs121908530
23andMe	rs121908530
SNPshot	rs121908530
SNPdbe	rs121908530
MSV3d	rs121908530
GWAS Ctlg	rs121908530

Max Magnitude

0

OMIM	604285
Desc
Variant	0012
Related	also

OMIM	259900
Desc
Variant
Related	also

ClinVar
Risk	rs121908530(A;A) rs121908530(C;C)
Alt	rs121908530(A;A) rs121908530(C;C)
Reference	Rs121908530(G;G)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241810808G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006004.4,