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rs180177165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177165(C;C)
Make rs180177165(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240878793
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177165
dbSNP (classic)rs180177165
ClinGenrs180177165
ebirs180177165
HLIrs180177165
Exacrs180177165
Gnomadrs180177165
Varsomers180177165
LitVarrs180177165
Maprs180177165
PheGenIrs180177165
Biobankrs180177165
1000 genomesrs180177165
hgdprs180177165
ensemblrs180177165
geneviewrs180177165
scholarrs180177165
googlers180177165
pharmgkbrs180177165
gwascentralrs180177165
openSNPrs180177165
23andMers180177165
SNPshotrs180177165
SNPdbers180177165
MSV3drs180177165
GWAS Ctlgrs180177165
Max Magnitude0
ClinVar
Risk rs180177165(C;C)
Alt rs180177165(C;C)
Reference Rs180177165(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241818210T>C
CLNSRC
CLNACC RCV000186357.1,