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rs180177220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177220(-;-)
Make rs180177220(-;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871370
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177220
dbSNP (classic)rs180177220
ClinGenrs180177220
ebirs180177220
HLIrs180177220
Exacrs180177220
Gnomadrs180177220
Varsomers180177220
LitVarrs180177220
Maprs180177220
PheGenIrs180177220
Biobankrs180177220
1000 genomesrs180177220
hgdprs180177220
ensemblrs180177220
geneviewrs180177220
scholarrs180177220
googlers180177220
pharmgkbrs180177220
gwascentralrs180177220
openSNPrs180177220
23andMers180177220
SNPshotrs180177220
SNPdbers180177220
MSV3drs180177220
GWAS Ctlgrs180177220
Max Magnitude0
ClinVar
Risk rs180177220(-;-)
Alt rs180177220(-;-)
Reference Rs180177220(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810787delG
CLNSRC
CLNACC RCV000186393.1,