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rs180177252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177252(A;A)
Make rs180177252(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240874028
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177252
dbSNP (classic)rs180177252
ClinGenrs180177252
ebirs180177252
HLIrs180177252
Exacrs180177252
Gnomadrs180177252
Varsomers180177252
LitVarrs180177252
Maprs180177252
PheGenIrs180177252
Biobankrs180177252
1000 genomesrs180177252
hgdprs180177252
ensemblrs180177252
geneviewrs180177252
scholarrs180177252
googlers180177252
pharmgkbrs180177252
gwascentralrs180177252
openSNPrs180177252
23andMers180177252
SNPshotrs180177252
SNPdbers180177252
MSV3drs180177252
GWAS Ctlgrs180177252
Max Magnitude0
ClinVar
Risk rs180177252(A;A)
Alt rs180177252(A;A)
Reference Rs180177252(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813445G>A
CLNSRC
CLNACC RCV000186327.1,