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

rs180177190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs180177190(-;GAG)
Make rs180177190(GAG;GAG)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869289
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177190
dbSNP (classic)rs180177190
ClinGenrs180177190
ebirs180177190
HLIrs180177190
Exacrs180177190
Gnomadrs180177190
Varsomers180177190
LitVarrs180177190
Maprs180177190
PheGenIrs180177190
Biobankrs180177190
1000 genomesrs180177190
hgdprs180177190
ensemblrs180177190
geneviewrs180177190
scholarrs180177190
googlers180177190
pharmgkbrs180177190
gwascentralrs180177190
openSNPrs180177190
23andMers180177190
SNPshotrs180177190
SNPdbers180177190
MSV3drs180177190
GWAS Ctlgrs180177190
Max Magnitude0
ClinVar
Risk rs180177190(GGA;GGA)
Alt rs180177190(GGA;GGA)
Reference Rs180177190(-;-)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808704_241808706dupGAG
CLNSRC
CLNACC RCV000186387.1,