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rs1057516982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516982(A;G)
Make rs1057516982(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52027898
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516982
dbSNP (old)rs1057516982
ClinGenrs1057516982
ebirs1057516982
HLIrs1057516982
Exacrs1057516982
Gnomadrs1057516982
Varsomers1057516982
Maprs1057516982
PheGenIrs1057516982
Biobankrs1057516982
1000 genomesrs1057516982
hgdprs1057516982
ensemblrs1057516982
gopubmedrs1057516982
geneviewrs1057516982
scholarrs1057516982
googlers1057516982
pharmgkbrs1057516982
gwascentralrs1057516982
openSNPrs1057516982
23andMers1057516982
23andMe allrs1057516982
SNPshotrs1057516982
SNPdbers1057516982
MSV3drs1057516982
GWAS Ctlgrs1057516982
Max Magnitude0
ClinVar
Risk rs1057516982(G;G)
Alt rs1057516982(G;G)
Reference Rs1057516982(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.51892696T>C
CLNSRC
CLNACC RCV000410032.1,