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

rs180177184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177184(C;T)
Make rs180177184(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869246
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177184
dbSNP (classic)rs180177184
ClinGenrs180177184
ebirs180177184
HLIrs180177184
Exacrs180177184
Gnomadrs180177184
Varsomers180177184
LitVarrs180177184
Maprs180177184
PheGenIrs180177184
Biobankrs180177184
1000 genomesrs180177184
hgdprs180177184
ensemblrs180177184
geneviewrs180177184
scholarrs180177184
googlers180177184
pharmgkbrs180177184
gwascentralrs180177184
openSNPrs180177184
23andMers180177184
SNPshotrs180177184
SNPdbers180177184
MSV3drs180177184
GWAS Ctlgrs180177184
Max Magnitude0
ClinVar
Risk rs180177184(A;A) rs180177184(T;T)
Alt rs180177184(A;A) rs180177184(T;T)
Reference Rs180177184(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808663C>A; NC_000002.11:g.241808663C>T
CLNSRC
CLNACC RCV000186288.1, RCV000186289.1,