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rs180177221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCTGCTGT;GCTGCTGT) 0 common in clinvar
(GTGCTGCT;GTGCTGCT) 0 common in clinvar
Make rs180177221(-;-)
Make rs180177221(-;GCTGCTGT)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871372
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177221
ebirs180177221
HLIrs180177221
Exacrs180177221
Varsomers180177221
Maprs180177221
PheGenIrs180177221
hapmaprs180177221
1000 genomesrs180177221
hgdprs180177221
ensemblrs180177221
gopubmedrs180177221
geneviewrs180177221
scholarrs180177221
googlers180177221
pharmgkbrs180177221
gwascentralrs180177221
openSNPrs180177221
23andMers180177221
23andMe allrs180177221
SNP Nexus

SNPshotrs180177221
SNPdbers180177221
MSV3drs180177221
GWAS Ctlgrs180177221
Max Magnitude0
ClinVar
Risk rs180177221(;)
Alt rs180177221(;)
Reference rs180177221(GTGCTGCT;GTGCTGCT)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810789_241810796delGCTGCTGT
CLNSRC
CLNACC RCV000186392.1,