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rs180177246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177246(A;A)
Make rs180177246(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240873985
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177246
dbSNP (classic)rs180177246
ClinGenrs180177246
ebirs180177246
HLIrs180177246
Exacrs180177246
Gnomadrs180177246
Varsomers180177246
LitVarrs180177246
Maprs180177246
PheGenIrs180177246
Biobankrs180177246
1000 genomesrs180177246
hgdprs180177246
ensemblrs180177246
geneviewrs180177246
scholarrs180177246
googlers180177246
pharmgkbrs180177246
gwascentralrs180177246
openSNPrs180177246
23andMers180177246
SNPshotrs180177246
SNPdbers180177246
MSV3drs180177246
GWAS Ctlgrs180177246
Max Magnitude0
ClinVar
Risk rs180177246(A;A)
Alt rs180177246(A;A)
Reference Rs180177246(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813402C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000186321.1,