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rs1057517326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517326(-;G)
Make rs1057517326(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51659664
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs1057517326
dbSNP (old)rs1057517326
ClinGenrs1057517326
ebirs1057517326
HLIrs1057517326
Exacrs1057517326
Gnomadrs1057517326
Varsomers1057517326
LitVarrs1057517326
Maprs1057517326
PheGenIrs1057517326
Biobankrs1057517326
1000 genomesrs1057517326
hgdprs1057517326
ensemblrs1057517326
gopubmedrs1057517326
geneviewrs1057517326
scholarrs1057517326
googlers1057517326
pharmgkbrs1057517326
gwascentralrs1057517326
openSNPrs1057517326
23andMers1057517326
23andMe allrs1057517326
SNPshotrs1057517326
SNPdbers1057517326
MSV3drs1057517326
GWAS Ctlgrs1057517326
Max Magnitude0
ClinVar
Risk rs1057517326(G;G)
Alt rs1057517326(G;G)
Reference Rs1057517326(-;-)
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.51524463dupC
CLNSRC
CLNACC RCV000411488.1,