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rs1057516896

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGG;AAGG) 0 common in clinvar
Make rs1057516896(-;-)
Make rs1057516896(-;AAGG)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position240874055
GeneAGXT
is asnp
is mentioned by
dbSNPrs1057516896
dbSNP (old)rs1057516896
ClinGenrs1057516896
ebirs1057516896
HLIrs1057516896
Exacrs1057516896
Gnomadrs1057516896
Varsomers1057516896
Maprs1057516896
PheGenIrs1057516896
Biobankrs1057516896
1000 genomesrs1057516896
hgdprs1057516896
ensemblrs1057516896
gopubmedrs1057516896
geneviewrs1057516896
scholarrs1057516896
googlers1057516896
pharmgkbrs1057516896
gwascentralrs1057516896
openSNPrs1057516896
23andMers1057516896
23andMe allrs1057516896
SNPshotrs1057516896
SNPdbers1057516896
MSV3drs1057516896
GWAS Ctlgrs1057516896
Max Magnitude0
ClinVar
Risk rs1057516896(-;-)
Alt rs1057516896(-;-)
Reference Rs1057516896(AAGG;AAGG)
Significance Probable-Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813472_241813475delAAGG
CLNSRC
CLNACC RCV000410991.1,