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rs180177232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177232(A;A)
Make rs180177232(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871444
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177232
dbSNP (classic)rs180177232
ClinGenrs180177232
ebirs180177232
HLIrs180177232
Exacrs180177232
Gnomadrs180177232
Varsomers180177232
LitVarrs180177232
Maprs180177232
PheGenIrs180177232
Biobankrs180177232
1000 genomesrs180177232
hgdprs180177232
ensemblrs180177232
geneviewrs180177232
scholarrs180177232
googlers180177232
pharmgkbrs180177232
gwascentralrs180177232
openSNPrs180177232
23andMers180177232
SNPshotrs180177232
SNPdbers180177232
MSV3drs180177232
GWAS Ctlgrs180177232
Max Magnitude0
ClinVar
Risk rs180177232(A;A) rs180177232(G;G) rs180177232(T;T)
Alt rs180177232(A;A) rs180177232(G;G) rs180177232(T;T)
Reference Rs180177232(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810861C>A
CLNSRC
CLNACC RCV000186315.1,