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rs1057517220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACTG;ACTG) 0 common in clinvar
Make rs1057517220(-;-)
Make rs1057517220(-;ACTG)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52084927
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517220
dbSNP (old)rs1057517220
ClinGenrs1057517220
ebirs1057517220
HLIrs1057517220
Exacrs1057517220
Gnomadrs1057517220
Varsomers1057517220
Maprs1057517220
PheGenIrs1057517220
Biobankrs1057517220
1000 genomesrs1057517220
hgdprs1057517220
ensemblrs1057517220
gopubmedrs1057517220
geneviewrs1057517220
scholarrs1057517220
googlers1057517220
pharmgkbrs1057517220
gwascentralrs1057517220
openSNPrs1057517220
23andMers1057517220
23andMe allrs1057517220
SNPshotrs1057517220
SNPdbers1057517220
MSV3drs1057517220
GWAS Ctlgrs1057517220
Max Magnitude0
ClinVar
Risk rs1057517220(-;-)
Alt rs1057517220(-;-)
Reference Rs1057517220(ACTG;ACTG)
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.51949725_51949728delCAGT
CLNSRC
CLNACC RCV000411630.1,