Have questions? Visit https://www.reddit.com/r/SNPedia

rs180177271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177271(C;C)
Make rs180177271(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240875964
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177271
dbSNP (classic)rs180177271
ClinGenrs180177271
ebirs180177271
HLIrs180177271
Exacrs180177271
Gnomadrs180177271
Varsomers180177271
LitVarrs180177271
Maprs180177271
PheGenIrs180177271
Biobankrs180177271
1000 genomesrs180177271
hgdprs180177271
ensemblrs180177271
geneviewrs180177271
scholarrs180177271
googlers180177271
pharmgkbrs180177271
gwascentralrs180177271
openSNPrs180177271
23andMers180177271
SNPshotrs180177271
SNPdbers180177271
MSV3drs180177271
GWAS Ctlgrs180177271
Max Magnitude0
ClinVar
Risk rs180177271(C;C)
Alt rs180177271(C;C)
Reference Rs180177271(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241815381T>C
CLNSRC
CLNACC RCV000186334.1,