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rs1057516596

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516596(-;-)
Make rs1057516596(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51883173
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516596
dbSNP (old)rs1057516596
ClinGenrs1057516596
ebirs1057516596
HLIrs1057516596
Exacrs1057516596
Gnomadrs1057516596
Varsomers1057516596
Maprs1057516596
PheGenIrs1057516596
Biobankrs1057516596
1000 genomesrs1057516596
hgdprs1057516596
ensemblrs1057516596
gopubmedrs1057516596
geneviewrs1057516596
scholarrs1057516596
googlers1057516596
pharmgkbrs1057516596
gwascentralrs1057516596
openSNPrs1057516596
23andMers1057516596
23andMe allrs1057516596
SNPshotrs1057516596
SNPdbers1057516596
MSV3drs1057516596
GWAS Ctlgrs1057516596
Max Magnitude0
ClinVar
Risk rs1057516596(-;-)
Alt rs1057516596(-;-)
Reference Rs1057516596(G;G)
Significance Probable-Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51747971delC
CLNSRC
CLNACC RCV000412300.1,