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rs180177233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs180177233(CC;GA)
Make rs180177233(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871444
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177233
ebirs180177233
HLIrs180177233
Exacrs180177233
Varsomers180177233
Maprs180177233
PheGenIrs180177233
hapmaprs180177233
1000 genomesrs180177233
hgdprs180177233
ensemblrs180177233
gopubmedrs180177233
geneviewrs180177233
scholarrs180177233
googlers180177233
pharmgkbrs180177233
gwascentralrs180177233
openSNPrs180177233
23andMers180177233
23andMe allrs180177233
SNP Nexus

SNPshotrs180177233
SNPdbers180177233
MSV3drs180177233
GWAS Ctlgrs180177233
Max Magnitude0
ClinVar
Risk rs180177233(GA;GA)
Alt rs180177233(GA;GA)
Reference rs180177233(CC;CC)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810861_241810862delCCinsGA
CLNSRC
CLNACC RCV000186395.1,