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rs180177242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs180177242(-;-)
Make rs180177242(-;C)
Make rs180177242(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240873031
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177242
ebirs180177242
HLIrs180177242
Exacrs180177242
Varsomers180177242
Maprs180177242
PheGenIrs180177242
hapmaprs180177242
1000 genomesrs180177242
hgdprs180177242
ensemblrs180177242
gopubmedrs180177242
geneviewrs180177242
scholarrs180177242
googlers180177242
pharmgkbrs180177242
gwascentralrs180177242
openSNPrs180177242
23andMers180177242
23andMe allrs180177242
SNP Nexus

SNPshotrs180177242
SNPdbers180177242
MSV3drs180177242
GWAS Ctlgrs180177242
Max Magnitude0
ClinVar
Risk rs180177242(C;C)
Alt rs180177242(C;C)
Reference rs180177242(;)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241812448dupC
CLNSRC
CLNACC RCV000186399.1,