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rs1057517357

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517357(-;AGTT)
Make rs1057517357(AGTT;AGTT)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51746859
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517357
dbSNP (old)rs1057517357
ClinGenrs1057517357
ebirs1057517357
HLIrs1057517357
Exacrs1057517357
Gnomadrs1057517357
Varsomers1057517357
LitVarrs1057517357
Maprs1057517357
PheGenIrs1057517357
Biobankrs1057517357
1000 genomesrs1057517357
hgdprs1057517357
ensemblrs1057517357
gopubmedrs1057517357
geneviewrs1057517357
scholarrs1057517357
googlers1057517357
pharmgkbrs1057517357
gwascentralrs1057517357
openSNPrs1057517357
23andMers1057517357
23andMe allrs1057517357
SNPshotrs1057517357
SNPdbers1057517357
MSV3drs1057517357
GWAS Ctlgrs1057517357
Max Magnitude0
ClinVar
Risk rs1057517357(AGTT;AGTT)
Alt rs1057517357(AGTT;AGTT)
Reference Rs1057517357(-;-)
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.51611658_51611661dupAACT
CLNSRC
CLNACC RCV000410690.1,