Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516709

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516709(-;-)
Make rs1057516709(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52046006
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516709
dbSNP (old)rs1057516709
ClinGenrs1057516709
ebirs1057516709
HLIrs1057516709
Exacrs1057516709
Gnomadrs1057516709
Varsomers1057516709
Maprs1057516709
PheGenIrs1057516709
Biobankrs1057516709
1000 genomesrs1057516709
hgdprs1057516709
ensemblrs1057516709
gopubmedrs1057516709
geneviewrs1057516709
scholarrs1057516709
googlers1057516709
pharmgkbrs1057516709
gwascentralrs1057516709
openSNPrs1057516709
23andMers1057516709
23andMe allrs1057516709
SNPshotrs1057516709
SNPdbers1057516709
MSV3drs1057516709
GWAS Ctlgrs1057516709
Max Magnitude0
ClinVar
Risk rs1057516709(-;-)
Alt rs1057516709(-;-)
Reference Rs1057516709(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.51910804delT
CLNSRC
CLNACC RCV000409321.1,