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rs180177237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CATCCC;CATCCC) 0 common in clinvar
Make rs180177237(ATCGGT;ATCGGT)
Make rs180177237(ATCGGT;CATCCC)
ReferenceGRCh38 38.1/141
Chromosome2
Position240873011
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177237
ebirs180177237
HLIrs180177237
Exacrs180177237
Varsomers180177237
Maprs180177237
PheGenIrs180177237
hapmaprs180177237
1000 genomesrs180177237
hgdprs180177237
ensemblrs180177237
gopubmedrs180177237
geneviewrs180177237
scholarrs180177237
googlers180177237
pharmgkbrs180177237
gwascentralrs180177237
openSNPrs180177237
23andMers180177237
23andMe allrs180177237
SNP Nexus

SNPshotrs180177237
SNPdbers180177237
MSV3drs180177237
GWAS Ctlgrs180177237
Max Magnitude0
ClinVar
Risk rs180177237(ATCGGT;ATCGGT)
Alt rs180177237(ATCGGT;ATCGGT)
Reference rs180177237(CATCCC;CATCCC)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241812428_241812433delCATCCCinsATCGGT
CLNSRC
CLNACC RCV000186396.1,