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rs146525143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146525143(C;C)
Make rs146525143(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240875980
GeneAGXT
is asnp
is mentioned by
dbSNPrs146525143
dbSNP (classic)rs146525143
ClinGenrs146525143
ebirs146525143
HLIrs146525143
Exacrs146525143
Gnomadrs146525143
Varsomers146525143
LitVarrs146525143
Maprs146525143
PheGenIrs146525143
Biobankrs146525143
1000 genomesrs146525143
hgdprs146525143
ensemblrs146525143
geneviewrs146525143
scholarrs146525143
googlers146525143
pharmgkbrs146525143
gwascentralrs146525143
openSNPrs146525143
23andMers146525143
SNPshotrs146525143
SNPdbers146525143
MSV3drs146525143
GWAS Ctlgrs146525143
Max Magnitude0
ClinVar
Risk rs146525143(C;C)
Alt rs146525143(C;C)
Reference Rs146525143(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241815397G>C
CLNSRC
CLNACC RCV000186335.1,