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rs180177270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CATCA;CATCA) 0 common in clinvar
Make rs180177270(ACAATCTCAG;ACAATCTCAG)
Make rs180177270(ACAATCTCAG;CATCA)
ReferenceGRCh38 38.1/141
Chromosome2
Position240875956
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177270
ebirs180177270
HLIrs180177270
Exacrs180177270
Varsomers180177270
Maprs180177270
PheGenIrs180177270
hapmaprs180177270
1000 genomesrs180177270
hgdprs180177270
ensemblrs180177270
gopubmedrs180177270
geneviewrs180177270
scholarrs180177270
googlers180177270
pharmgkbrs180177270
gwascentralrs180177270
openSNPrs180177270
23andMers180177270
23andMe allrs180177270
SNP Nexus

SNPshotrs180177270
SNPdbers180177270
MSV3drs180177270
GWAS Ctlgrs180177270
Max Magnitude0
ClinVar
Risk rs180177270(ACAATCTCAG;ACAATCTCAG)
Alt rs180177270(ACAATCTCAG;ACAATCTCAG)
Reference rs180177270(CATCA;CATCA)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241815373_241815377delCATCAinsACAATCTCAG
CLNSRC
CLNACC RCV000186407.1,