rs180177248

Orientation

plus

Stabilized

plus

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

Make rs180177248(A;A)

Make rs180177248(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240873996

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs180177248
dbSNP (classic)	rs180177248
ClinGen	rs180177248
ebi	rs180177248
HLI	rs180177248
Exac	rs180177248
Gnomad	rs180177248
Varsome	rs180177248
LitVar	rs180177248
Map	rs180177248
PheGenI	rs180177248
Biobank	rs180177248
1000 genomes	rs180177248
hgdp	rs180177248
ensembl	rs180177248
geneview	rs180177248
scholar	rs180177248
google	rs180177248
pharmgkb	rs180177248
gwascentral	rs180177248
openSNP	rs180177248
23andMe	rs180177248
SNPshot	rs180177248
SNPdbe	rs180177248
MSV3d	rs180177248
GWAS Ctlg	rs180177248

Merged from

Rs180177249

Max Magnitude

0

ClinVar
Risk	rs180177248(A;A) rs180177248(T;T)
Alt	rs180177248(A;A) rs180177248(T;T)
Reference	Rs180177248(C;C)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241813413C>A; NC_000002.11:g.241813413C>T
CLNSRC
CLNACC	RCV000186325.1, RCV000186324.1,