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rs180177215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGT;GGT) 0 common in clinvar
(TGG;TGG) 0 common in clinvar
Make rs180177215(-;-)
Make rs180177215(-;TGG)
ReferenceGRCh38 38.1/141
Chromosome2
Position240870701
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177215
dbSNP (classic)rs180177215
ClinGenrs180177215
ebirs180177215
HLIrs180177215
Exacrs180177215
Gnomadrs180177215
Varsomers180177215
LitVarrs180177215
Maprs180177215
PheGenIrs180177215
Biobankrs180177215
1000 genomesrs180177215
hgdprs180177215
ensemblrs180177215
geneviewrs180177215
scholarrs180177215
googlers180177215
pharmgkbrs180177215
gwascentralrs180177215
openSNPrs180177215
23andMers180177215
SNPshotrs180177215
SNPdbers180177215
MSV3drs180177215
GWAS Ctlgrs180177215
Max Magnitude0
ClinVar
Risk rs180177215(-;-)
Alt rs180177215(-;-)
Reference Rs180177215(GGT;GGT)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810118_241810120delTGG
CLNSRC
CLNACC RCV000186391.1,