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rs180177230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177230(C;C)
Make rs180177230(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871422
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177230
ebirs180177230
HLIrs180177230
Exacrs180177230
Varsomers180177230
Maprs180177230
PheGenIrs180177230
hapmaprs180177230
1000 genomesrs180177230
hgdprs180177230
ensemblrs180177230
gopubmedrs180177230
geneviewrs180177230
scholarrs180177230
googlers180177230
pharmgkbrs180177230
gwascentralrs180177230
openSNPrs180177230
23andMers180177230
23andMe allrs180177230
SNP Nexus

SNPshotrs180177230
SNPdbers180177230
MSV3drs180177230
GWAS Ctlgrs180177230
Max Magnitude0
ClinVar
Risk rs180177230(A,C;A,C)
Alt rs180177230(A,C;A,C)
Reference rs180177230(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810839T>C
CLNSRC
CLNACC RCV000186313.1,