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rs180177276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177276(-;-)
Make rs180177276(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240875992
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177276
dbSNP (classic)rs180177276
ClinGenrs180177276
ebirs180177276
HLIrs180177276
Exacrs180177276
Gnomadrs180177276
Varsomers180177276
LitVarrs180177276
Maprs180177276
PheGenIrs180177276
Biobankrs180177276
1000 genomesrs180177276
hgdprs180177276
ensemblrs180177276
geneviewrs180177276
scholarrs180177276
googlers180177276
pharmgkbrs180177276
gwascentralrs180177276
openSNPrs180177276
23andMers180177276
SNPshotrs180177276
SNPdbers180177276
MSV3drs180177276
GWAS Ctlgrs180177276
Max Magnitude0
ClinVar
Risk rs180177276(-;-)
Alt rs180177276(-;-)
Reference Rs180177276(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241815409delC
CLNSRC
CLNACC RCV000186410.1,