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rs180177217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177217(G;T)
Make rs180177217(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240870708
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177217
dbSNP (classic)rs180177217
ClinGenrs180177217
ebirs180177217
HLIrs180177217
Exacrs180177217
Gnomadrs180177217
Varsomers180177217
LitVarrs180177217
Maprs180177217
PheGenIrs180177217
Biobankrs180177217
1000 genomesrs180177217
hgdprs180177217
ensemblrs180177217
geneviewrs180177217
scholarrs180177217
googlers180177217
pharmgkbrs180177217
gwascentralrs180177217
openSNPrs180177217
23andMers180177217
SNPshotrs180177217
SNPdbers180177217
MSV3drs180177217
GWAS Ctlgrs180177217
Max Magnitude0
ClinVar
Risk rs180177217(T;T)
Alt rs180177217(T;T)
Reference Rs180177217(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810125G>T
CLNSRC
CLNACC RCV000186306.1,