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rs180177191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177191(A;A)
Make rs180177191(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240868893
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177191
dbSNP (classic)rs180177191
ClinGenrs180177191
ebirs180177191
HLIrs180177191
Exacrs180177191
Gnomadrs180177191
Varsomers180177191
LitVarrs180177191
Maprs180177191
PheGenIrs180177191
Biobankrs180177191
1000 genomesrs180177191
hgdprs180177191
ensemblrs180177191
geneviewrs180177191
scholarrs180177191
googlers180177191
pharmgkbrs180177191
gwascentralrs180177191
openSNPrs180177191
23andMers180177191
SNPshotrs180177191
SNPdbers180177191
MSV3drs180177191
GWAS Ctlgrs180177191
Max Magnitude0
ClinVar
Risk rs180177191(A;A) rs180177191(G;G) rs180177191(T;T)
Alt rs180177191(A;A) rs180177191(G;G) rs180177191(T;T)
Reference Rs180177191(C;C)
Significance Pathogenic
Disease not specified Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN not specified Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808310C>G; NC_000002.11:g.241808310C>T
CLNSRC
CLNACC RCV000425921.1, RCV000186274.1,