rs121908527

Orientation

plus

Stabilized

plus

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

Make rs121908527(A;A)

Make rs121908527(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240875126

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs121908527
dbSNP (classic)	rs121908527
ClinGen	rs121908527
ebi	rs121908527
HLI	rs121908527
Exac	rs121908527
Gnomad	rs121908527
Varsome	rs121908527
LitVar	rs121908527
Map	rs121908527
PheGenI	rs121908527
Biobank	rs121908527
1000 genomes	rs121908527
hgdp	rs121908527
ensembl	rs121908527
geneview	rs121908527
scholar	rs121908527
google	rs121908527
pharmgkb	rs121908527
gwascentral	rs121908527
openSNP	rs121908527
23andMe	rs121908527
SNPshot	rs121908527
SNPdbe	rs121908527
MSV3d	rs121908527
GWAS Ctlg	rs121908527

Max Magnitude

0

OMIM	604285
Desc
Variant	0009
Related	also

OMIM	259900
Desc
Variant
Related	also

ClinVar
Risk	rs121908527(A;A) rs121908527(C;C) rs121908527(T;T)
Alt	rs121908527(A;A) rs121908527(C;C) rs121908527(T;T)
Reference	Rs121908527(G;G)
Significance	Other
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241814543G>A; NC_000002.11:g.241814543G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006002.4, RCV000186329.1,