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rs180177227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177227(A;A)
Make rs180177227(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871406
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177227
dbSNP (classic)rs180177227
ClinGenrs180177227
ebirs180177227
HLIrs180177227
Exacrs180177227
Gnomadrs180177227
Varsomers180177227
LitVarrs180177227
Maprs180177227
PheGenIrs180177227
Biobankrs180177227
1000 genomesrs180177227
hgdprs180177227
ensemblrs180177227
geneviewrs180177227
scholarrs180177227
googlers180177227
pharmgkbrs180177227
gwascentralrs180177227
openSNPrs180177227
23andMers180177227
SNPshotrs180177227
SNPdbers180177227
MSV3drs180177227
GWAS Ctlgrs180177227
Merged fromRs180177228, Rs180177229
Max Magnitude0
ClinVar
Risk rs180177227(A;A) rs180177227(C;C) rs180177227(T;T)
Alt rs180177227(A;A) rs180177227(C;C) rs180177227(T;T)
Reference Rs180177227(G;G)
Significance Other
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810823G>A; NC_000002.11:g.241810823G>C; NC_000002.11:g.241810823G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000186311.1, RCV000186312.1, RCV000169046.2,