rs180177247

Orientation

plus

Stabilized

plus

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

Make rs180177247(A;A)

Make rs180177247(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240873994

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs180177247
dbSNP (classic)	rs180177247
ClinGen	rs180177247
ebi	rs180177247
HLI	rs180177247
Exac	rs180177247
Gnomad	rs180177247
Varsome	rs180177247
LitVar	rs180177247
Map	rs180177247
PheGenI	rs180177247
Biobank	rs180177247
1000 genomes	rs180177247
hgdp	rs180177247
ensembl	rs180177247
geneview	rs180177247
scholar	rs180177247
google	rs180177247
pharmgkb	rs180177247
gwascentral	rs180177247
openSNP	rs180177247
23andMe	rs180177247
SNPshot	rs180177247
SNPdbe	rs180177247
MSV3d	rs180177247
GWAS Ctlg	rs180177247

Max Magnitude

0

ClinVar
Risk	rs180177247(A;A)
Alt	rs180177247(A;A)
Reference	Rs180177247(C;C)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241813411C>A
CLNSRC
CLNACC	RCV000186323.1,