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rs180177248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177248(A;A)
Make rs180177248(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240873996
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177248
dbSNP (old)rs180177248
ClinGenrs180177248
ebirs180177248
HLIrs180177248
Exacrs180177248
Varsomers180177248
Maprs180177248
PheGenIrs180177248
Biobankrs180177248
1000 genomesrs180177248
hgdprs180177248
ensemblrs180177248
gopubmedrs180177248
geneviewrs180177248
scholarrs180177248
googlers180177248
pharmgkbrs180177248
gwascentralrs180177248
openSNPrs180177248
23andMers180177248
23andMe allrs180177248
SNP Nexus

SNPshotrs180177248
SNPdbers180177248
MSV3drs180177248
GWAS Ctlgrs180177248
Merged fromRs180177249
Max Magnitude0
ClinVar
Risk rs180177248(A;A) rs180177248(T;T)
Alt rs180177248(A;A) rs180177248(T;T)
Reference Rs180177248(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813413C>A; NC_000002.11:g.241813413C>T
CLNSRC
CLNACC RCV000186325.1, RCV000186324.1,