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rs180177265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177265(A;A)
Make rs180177265(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240875205
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177265
dbSNP (classic)rs180177265
ClinGenrs180177265
ebirs180177265
HLIrs180177265
Exacrs180177265
Gnomadrs180177265
Varsomers180177265
LitVarrs180177265
Maprs180177265
PheGenIrs180177265
Biobankrs180177265
1000 genomesrs180177265
hgdprs180177265
ensemblrs180177265
geneviewrs180177265
scholarrs180177265
googlers180177265
pharmgkbrs180177265
gwascentralrs180177265
openSNPrs180177265
23andMers180177265
SNPshotrs180177265
SNPdbers180177265
MSV3drs180177265
GWAS Ctlgrs180177265
Merged fromRs180177266
Max Magnitude0
ClinVar
Risk rs180177265(A;A) rs180177265(C;C)
Alt rs180177265(A;A) rs180177265(C;C)
Reference Rs180177265(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241814622G>A; NC_000002.11:g.241814622G>C
CLNSRC
CLNACC RCV000186364.1, RCV000186365.1,