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rs180177199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177199(G;T)
Make rs180177199(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869330
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177199
dbSNP (classic)rs180177199
ClinGenrs180177199
ebirs180177199
HLIrs180177199
Exacrs180177199
Gnomadrs180177199
Varsomers180177199
LitVarrs180177199
Maprs180177199
PheGenIrs180177199
Biobankrs180177199
1000 genomesrs180177199
hgdprs180177199
ensemblrs180177199
geneviewrs180177199
scholarrs180177199
googlers180177199
pharmgkbrs180177199
gwascentralrs180177199
openSNPrs180177199
23andMers180177199
SNPshotrs180177199
SNPdbers180177199
MSV3drs180177199
GWAS Ctlgrs180177199
Max Magnitude0
ClinVar
Risk rs180177199(T;T)
Alt rs180177199(T;T)
Reference Rs180177199(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808747G>T
CLNSRC
CLNACC RCV000186296.1,