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rs180177187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(I;I) 0 common genotype
(T;T) 0 common in clinvar
Make rs180177187(-;-)
Make rs180177187(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869280
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177187
dbSNP (classic)rs180177187
ClinGenrs180177187
ebirs180177187
HLIrs180177187
Exacrs180177187
Gnomadrs180177187
Varsomers180177187
LitVarrs180177187
Maprs180177187
PheGenIrs180177187
Biobankrs180177187
1000 genomesrs180177187
hgdprs180177187
ensemblrs180177187
geneviewrs180177187
scholarrs180177187
googlers180177187
pharmgkbrs180177187
gwascentralrs180177187
openSNPrs180177187
23andMers180177187
SNPshotrs180177187
SNPdbers180177187
MSV3drs180177187
GWAS Ctlgrs180177187
Max Magnitude0
ClinVar
Risk rs180177187(-;-)
Alt rs180177187(-;-)
Reference Rs180177187(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808697delT
CLNSRC
CLNACC RCV000186386.1,