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rs1057516990

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516990(-;-)
Make rs1057516990(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position37429753
GeneGRHPR
is asnp
is mentioned by
dbSNPrs1057516990
dbSNP (old)rs1057516990
ClinGenrs1057516990
ebirs1057516990
HLIrs1057516990
Exacrs1057516990
Gnomadrs1057516990
Varsomers1057516990
Maprs1057516990
PheGenIrs1057516990
Biobankrs1057516990
1000 genomesrs1057516990
hgdprs1057516990
ensemblrs1057516990
gopubmedrs1057516990
geneviewrs1057516990
scholarrs1057516990
googlers1057516990
pharmgkbrs1057516990
gwascentralrs1057516990
openSNPrs1057516990
23andMers1057516990
23andMe allrs1057516990
SNPshotrs1057516990
SNPdbers1057516990
MSV3drs1057516990
GWAS Ctlgrs1057516990
Max Magnitude0
ClinVar
Risk rs1057516990(-;-)
Alt rs1057516990(-;-)
Reference Rs1057516990(T;T)
Significance Probable-Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene GRHPR
CLNDBN Primary hyperoxaluria, type II
Reversed 0
HGVS NC_000009.11:g.37429750delT
CLNSRC
CLNACC RCV000409258.1,