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rs180177255

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
Make rs180177255(-;-)
Make rs180177255(-;AAGT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240874061
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177255
dbSNP (old)rs180177255
ClinGenrs180177255
ebirs180177255
HLIrs180177255
Exacrs180177255
Gnomadrs180177255
Varsomers180177255
Maprs180177255
PheGenIrs180177255
Biobankrs180177255
1000 genomesrs180177255
hgdprs180177255
ensemblrs180177255
gopubmedrs180177255
geneviewrs180177255
scholarrs180177255
googlers180177255
pharmgkbrs180177255
gwascentralrs180177255
openSNPrs180177255
23andMers180177255
23andMe allrs180177255
SNPshotrs180177255
SNPdbers180177255
MSV3drs180177255
GWAS Ctlgrs180177255
Max Magnitude0
ClinVar
Risk rs180177255(-;-)
Alt rs180177255(-;-)
Reference Rs180177255(AAGT;AAGT)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813478_241813481delAAGT
CLNSRC
CLNACC RCV000186402.1,