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rs180177231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177231(A;A)
Make rs180177231(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871443
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177231
dbSNP (classic)rs180177231
ClinGenrs180177231
ebirs180177231
HLIrs180177231
Exacrs180177231
Gnomadrs180177231
Varsomers180177231
LitVarrs180177231
Maprs180177231
PheGenIrs180177231
Biobankrs180177231
1000 genomesrs180177231
hgdprs180177231
ensemblrs180177231
geneviewrs180177231
scholarrs180177231
googlers180177231
pharmgkbrs180177231
gwascentralrs180177231
openSNPrs180177231
23andMers180177231
SNPshotrs180177231
SNPdbers180177231
MSV3drs180177231
GWAS Ctlgrs180177231
Max Magnitude0
ClinVar
Risk rs180177231(A;A)
Alt rs180177231(A;A)
Reference Rs180177231(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810860G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000186314.1,