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rs180177254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177254(C;C)
Make rs180177254(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240874043
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177254
dbSNP (classic)rs180177254
ClinGenrs180177254
ebirs180177254
HLIrs180177254
Exacrs180177254
Gnomadrs180177254
Varsomers180177254
LitVarrs180177254
Maprs180177254
PheGenIrs180177254
Biobankrs180177254
1000 genomesrs180177254
hgdprs180177254
ensemblrs180177254
geneviewrs180177254
scholarrs180177254
googlers180177254
pharmgkbrs180177254
gwascentralrs180177254
openSNPrs180177254
23andMers180177254
SNPshotrs180177254
SNPdbers180177254
MSV3drs180177254
GWAS Ctlgrs180177254
Max Magnitude0
ClinVar
Risk rs180177254(C;C)
Alt rs180177254(C;C)
Reference Rs180177254(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813460T>C
CLNSRC
CLNACC RCV000186328.1,