rs180177185

Orientation

plus

Stabilized

plus

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

Make rs180177185(C;C)

Make rs180177185(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240869248

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs180177185
dbSNP (classic)	rs180177185
ClinGen	rs180177185
ebi	rs180177185
HLI	rs180177185
Exac	rs180177185
Gnomad	rs180177185
Varsome	rs180177185
LitVar	rs180177185
Map	rs180177185
PheGenI	rs180177185
Biobank	rs180177185
1000 genomes	rs180177185
hgdp	rs180177185
ensembl	rs180177185
geneview	rs180177185
scholar	rs180177185
google	rs180177185
pharmgkb	rs180177185
gwascentral	rs180177185
openSNP	rs180177185
23andMe	rs180177185
SNPshot	rs180177185
SNPdbe	rs180177185
MSV3d	rs180177185
GWAS Ctlg	rs180177185

Max Magnitude

0

ClinVar
Risk	rs180177185(C;C)
Alt	rs180177185(C;C)
Reference	Rs180177185(G;G)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241808665G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000186290.1,