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rs1057516768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516768(C;T)
Make rs1057516768(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52069487
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516768
dbSNP (old)rs1057516768
ClinGenrs1057516768
ebirs1057516768
HLIrs1057516768
Exacrs1057516768
Gnomadrs1057516768
Varsomers1057516768
Maprs1057516768
PheGenIrs1057516768
Biobankrs1057516768
1000 genomesrs1057516768
hgdprs1057516768
ensemblrs1057516768
gopubmedrs1057516768
geneviewrs1057516768
scholarrs1057516768
googlers1057516768
pharmgkbrs1057516768
gwascentralrs1057516768
openSNPrs1057516768
23andMers1057516768
23andMe allrs1057516768
SNPshotrs1057516768
SNPdbers1057516768
MSV3drs1057516768
GWAS Ctlgrs1057516768
Max Magnitude0
ClinVar
Risk rs1057516768(T;T)
Alt rs1057516768(T;T)
Reference Rs1057516768(C;C)
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.51934285G>A
CLNSRC
CLNACC RCV000411384.1,