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rs180177219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs180177219(A;G)
Make rs180177219(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871347
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177219
dbSNP (classic)rs180177219
ClinGenrs180177219
ebirs180177219
HLIrs180177219
Exacrs180177219
Gnomadrs180177219
Varsomers180177219
LitVarrs180177219
Maprs180177219
PheGenIrs180177219
Biobankrs180177219
1000 genomesrs180177219
hgdprs180177219
ensemblrs180177219
geneviewrs180177219
scholarrs180177219
googlers180177219
pharmgkbrs180177219
gwascentralrs180177219
openSNPrs180177219
23andMers180177219
SNPshotrs180177219
SNPdbers180177219
MSV3drs180177219
GWAS Ctlgrs180177219
Max Magnitude0
ClinVar
Risk rs180177219(G;G)
Alt rs180177219(G;G)
Reference Rs180177219(A;A)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810764A>G
CLNSRC
CLNACC RCV000186371.1,