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rs180177194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs180177194(AT;AT)
Make rs180177194(AT;TG)
ReferenceGRCh38 38.1/141
Chromosome2
Position240868867
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177194
ebirs180177194
HLIrs180177194
Exacrs180177194
Varsomers180177194
Maprs180177194
PheGenIrs180177194
hapmaprs180177194
1000 genomesrs180177194
hgdprs180177194
ensemblrs180177194
gopubmedrs180177194
geneviewrs180177194
scholarrs180177194
googlers180177194
pharmgkbrs180177194
gwascentralrs180177194
openSNPrs180177194
23andMers180177194
23andMe allrs180177194
SNP Nexus

SNPshotrs180177194
SNPdbers180177194
MSV3drs180177194
GWAS Ctlgrs180177194
Max Magnitude0
ClinVar
Risk rs180177194(AT;AT)
Alt rs180177194(AT;AT)
Reference rs180177194(TG;TG)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808284_241808285delTGinsAT
CLNSRC
CLNACC RCV000186379.1,