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rs180177238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177238(C;T)
Make rs180177238(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240873014
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177238
dbSNP (classic)rs180177238
ClinGenrs180177238
ebirs180177238
HLIrs180177238
Exacrs180177238
Gnomadrs180177238
Varsomers180177238
LitVarrs180177238
Maprs180177238
PheGenIrs180177238
Biobankrs180177238
1000 genomesrs180177238
hgdprs180177238
ensemblrs180177238
geneviewrs180177238
scholarrs180177238
googlers180177238
pharmgkbrs180177238
gwascentralrs180177238
openSNPrs180177238
23andMers180177238
SNPshotrs180177238
SNPdbers180177238
MSV3drs180177238
GWAS Ctlgrs180177238
Max Magnitude0
ClinVar
Risk rs180177238(T;T)
Alt rs180177238(T;T)
Reference Rs180177238(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241812431C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000128801.3,