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rs180177193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs180177193(-;TCCTGGTTG)
Make rs180177193(TCCTGGTTG;TCCTGGTTG)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869311
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177193
dbSNP (classic)rs180177193
ClinGenrs180177193
ebirs180177193
HLIrs180177193
Exacrs180177193
Gnomadrs180177193
Varsomers180177193
LitVarrs180177193
Maprs180177193
PheGenIrs180177193
Biobankrs180177193
1000 genomesrs180177193
hgdprs180177193
ensemblrs180177193
geneviewrs180177193
scholarrs180177193
googlers180177193
pharmgkbrs180177193
gwascentralrs180177193
openSNPrs180177193
23andMers180177193
SNPshotrs180177193
SNPdbers180177193
MSV3drs180177193
GWAS Ctlgrs180177193
Max Magnitude0
ClinVar
Risk rs180177193(TCCTGGTTG;TCCTGGTTG)
Alt rs180177193(TCCTGGTTG;TCCTGGTTG)
Reference Rs180177193(-;-)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808720_241808728dupTCCTGGTTG
CLNSRC
CLNACC RCV000186388.1,