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rs1057516835

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516835(-;-)
Make rs1057516835(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51659708
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs1057516835
dbSNP (old)rs1057516835
ClinGenrs1057516835
ebirs1057516835
HLIrs1057516835
Exacrs1057516835
Gnomadrs1057516835
Varsomers1057516835
Maprs1057516835
PheGenIrs1057516835
Biobankrs1057516835
1000 genomesrs1057516835
hgdprs1057516835
ensemblrs1057516835
gopubmedrs1057516835
geneviewrs1057516835
scholarrs1057516835
googlers1057516835
pharmgkbrs1057516835
gwascentralrs1057516835
openSNPrs1057516835
23andMers1057516835
23andMe allrs1057516835
SNPshotrs1057516835
SNPdbers1057516835
MSV3drs1057516835
GWAS Ctlgrs1057516835
Max Magnitude0
ClinVar
Risk rs1057516835(-;-)
Alt rs1057516835(-;-)
Reference Rs1057516835(T;T)
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.51524506delA
CLNSRC
CLNACC RCV000410302.1,