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rs1057517333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1057517333(-;-)
Make rs1057517333(-;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position37428514
GeneGRHPR
is asnp
is mentioned by
dbSNPrs1057517333
dbSNP (classic)rs1057517333
ClinGenrs1057517333
ebirs1057517333
HLIrs1057517333
Exacrs1057517333
Gnomadrs1057517333
Varsomers1057517333
LitVarrs1057517333
Maprs1057517333
PheGenIrs1057517333
Biobankrs1057517333
1000 genomesrs1057517333
hgdprs1057517333
ensemblrs1057517333
geneviewrs1057517333
scholarrs1057517333
googlers1057517333
pharmgkbrs1057517333
gwascentralrs1057517333
openSNPrs1057517333
23andMers1057517333
SNPshotrs1057517333
SNPdbers1057517333
MSV3drs1057517333
GWAS Ctlgrs1057517333
Max Magnitude0
ClinVar
Risk rs1057517333(-;-)
Alt rs1057517333(-;-)
Reference Rs1057517333(GC;GC)
Significance Probable-Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene GRHPR
CLNDBN Primary hyperoxaluria, type II
Reversed 0
HGVS NC_000009.11:g.37428511_37428512delGC
CLNSRC
CLNACC RCV000410868.1,