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rs180177183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs180177183(-;-)
Make rs180177183(-;TCACACT)
Make rs180177183(TCACACT;TCACACT)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869231
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177183
ebirs180177183
HLIrs180177183
Exacrs180177183
Varsomers180177183
Maprs180177183
PheGenIrs180177183
hapmaprs180177183
1000 genomesrs180177183
hgdprs180177183
ensemblrs180177183
gopubmedrs180177183
geneviewrs180177183
scholarrs180177183
googlers180177183
pharmgkbrs180177183
gwascentralrs180177183
openSNPrs180177183
23andMers180177183
23andMe allrs180177183
SNP Nexus

SNPshotrs180177183
SNPdbers180177183
MSV3drs180177183
GWAS Ctlgrs180177183
Max Magnitude0
ClinVar
Risk rs180177183(TCACACT;TCACACT)
Alt rs180177183(TCACACT;TCACACT)
Reference rs180177183(;)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808642_241808648dupTCACACT
CLNSRC
CLNACC RCV000186385.1,