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rs180177223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177223(G;G)
Make rs180177223(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240871382
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177223
dbSNP (classic)rs180177223
ClinGenrs180177223
ebirs180177223
HLIrs180177223
Exacrs180177223
Gnomadrs180177223
Varsomers180177223
LitVarrs180177223
Maprs180177223
PheGenIrs180177223
Biobankrs180177223
1000 genomesrs180177223
hgdprs180177223
ensemblrs180177223
geneviewrs180177223
scholarrs180177223
googlers180177223
pharmgkbrs180177223
gwascentralrs180177223
openSNPrs180177223
23andMers180177223
SNPshotrs180177223
SNPdbers180177223
MSV3drs180177223
GWAS Ctlgrs180177223
Max Magnitude0
ClinVar
Risk rs180177223(G;G)
Alt rs180177223(G;G)
Reference Rs180177223(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810799T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000186308.1,