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rs1057517071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517071(-;T)
Make rs1057517071(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51744431
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517071
dbSNP (old)rs1057517071
ClinGenrs1057517071
ebirs1057517071
HLIrs1057517071
Exacrs1057517071
Gnomadrs1057517071
Varsomers1057517071
LitVarrs1057517071
Maprs1057517071
PheGenIrs1057517071
Biobankrs1057517071
1000 genomesrs1057517071
hgdprs1057517071
ensemblrs1057517071
gopubmedrs1057517071
geneviewrs1057517071
scholarrs1057517071
googlers1057517071
pharmgkbrs1057517071
gwascentralrs1057517071
openSNPrs1057517071
23andMers1057517071
23andMe allrs1057517071
SNPshotrs1057517071
SNPdbers1057517071
MSV3drs1057517071
GWAS Ctlgrs1057517071
Max Magnitude0
ClinVar
Risk rs1057517071(T;T)
Alt rs1057517071(T;T)
Reference Rs1057517071(-;-)
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.51609230dupA
CLNSRC
CLNACC RCV000412022.1,