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rs180177302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGGCT;CTGGCT) 0 common in clinvar
Make rs180177302(-;-)
Make rs180177302(-;CTGGCT)
ReferenceGRCh38 38.1/141
Chromosome2
Position240878062
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177302
ebirs180177302
HLIrs180177302
Exacrs180177302
Varsomers180177302
Maprs180177302
PheGenIrs180177302
hapmaprs180177302
1000 genomesrs180177302
hgdprs180177302
ensemblrs180177302
gopubmedrs180177302
geneviewrs180177302
scholarrs180177302
googlers180177302
pharmgkbrs180177302
gwascentralrs180177302
openSNPrs180177302
23andMers180177302
23andMe allrs180177302
SNP Nexus

SNPshotrs180177302
SNPdbers180177302
MSV3drs180177302
GWAS Ctlgrs180177302
Max Magnitude0
ClinVar
Risk rs180177302(;)
Alt rs180177302(;)
Reference rs180177302(CTGGCT;CTGGCT)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241817479_241817484delCTGGCT
CLNSRC
CLNACC RCV000186417.1,