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rs180177295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177295(-;-)
Make rs180177295(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240877609
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177295
dbSNP (classic)rs180177295
ClinGenrs180177295
ebirs180177295
HLIrs180177295
Exacrs180177295
Gnomadrs180177295
Varsomers180177295
LitVarrs180177295
Maprs180177295
PheGenIrs180177295
Biobankrs180177295
1000 genomesrs180177295
hgdprs180177295
ensemblrs180177295
geneviewrs180177295
scholarrs180177295
googlers180177295
pharmgkbrs180177295
gwascentralrs180177295
openSNPrs180177295
23andMers180177295
SNPshotrs180177295
SNPdbers180177295
MSV3drs180177295
GWAS Ctlgrs180177295
Max Magnitude0
ClinVar
Risk rs180177295(-;-)
Alt rs180177295(-;-)
Reference Rs180177295(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241817026delC
CLNSRC
CLNACC RCV000186414.1,