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rs180177173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177173(A;A)
Make rs180177173(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869004
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177173
dbSNP (classic)rs180177173
ClinGenrs180177173
ebirs180177173
HLIrs180177173
Exacrs180177173
Gnomadrs180177173
Varsomers180177173
LitVarrs180177173
Maprs180177173
PheGenIrs180177173
Biobankrs180177173
1000 genomesrs180177173
hgdprs180177173
ensemblrs180177173
geneviewrs180177173
scholarrs180177173
googlers180177173
pharmgkbrs180177173
gwascentralrs180177173
openSNPrs180177173
23andMers180177173
SNPshotrs180177173
SNPdbers180177173
MSV3drs180177173
GWAS Ctlgrs180177173
Max Magnitude0
ClinVar
Risk rs180177173(A;A) rs180177173(C;C)
Alt rs180177173(A;A) rs180177173(C;C)
Reference Rs180177173(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808421G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000186282.1,