rs180177293

Orientation

plus

Stabilized

plus

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

Make rs180177293(C;C)

Make rs180177293(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240877583

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs180177293
dbSNP (classic)	rs180177293
ClinGen	rs180177293
ebi	rs180177293
HLI	rs180177293
Exac	rs180177293
Gnomad	rs180177293
Varsome	rs180177293
LitVar	rs180177293
Map	rs180177293
PheGenI	rs180177293
Biobank	rs180177293
1000 genomes	rs180177293
hgdp	rs180177293
ensembl	rs180177293
geneview	rs180177293
scholar	rs180177293
google	rs180177293
pharmgkb	rs180177293
gwascentral	rs180177293
openSNP	rs180177293
23andMe	rs180177293
SNPshot	rs180177293
SNPdbe	rs180177293
MSV3d	rs180177293
GWAS Ctlg	rs180177293

Max Magnitude

0

ClinVar
Risk	rs180177293(C;C)
Alt	rs180177293(C;C)
Reference	Rs180177293(T;T)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241817000T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000186343.1,