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rs1057517273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517273(-;-)
Make rs1057517273(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52025870
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517273
dbSNP (old)rs1057517273
ClinGenrs1057517273
ebirs1057517273
HLIrs1057517273
Exacrs1057517273
Gnomadrs1057517273
Varsomers1057517273
Maprs1057517273
PheGenIrs1057517273
Biobankrs1057517273
1000 genomesrs1057517273
hgdprs1057517273
ensemblrs1057517273
gopubmedrs1057517273
geneviewrs1057517273
scholarrs1057517273
googlers1057517273
pharmgkbrs1057517273
gwascentralrs1057517273
openSNPrs1057517273
23andMers1057517273
23andMe allrs1057517273
SNPshotrs1057517273
SNPdbers1057517273
MSV3drs1057517273
GWAS Ctlgrs1057517273
Max Magnitude0
ClinVar
Risk rs1057517273(-;-)
Alt rs1057517273(-;-)
Reference Rs1057517273(A;A)
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.51890668delT
CLNSRC
CLNACC RCV000409843.1,