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

rs1057516691

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516691(-;-)
Make rs1057516691(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52025236
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516691
dbSNP (classic)rs1057516691
ClinGenrs1057516691
ebirs1057516691
HLIrs1057516691
Exacrs1057516691
Gnomadrs1057516691
Varsomers1057516691
LitVarrs1057516691
Maprs1057516691
PheGenIrs1057516691
Biobankrs1057516691
1000 genomesrs1057516691
hgdprs1057516691
ensemblrs1057516691
geneviewrs1057516691
scholarrs1057516691
googlers1057516691
pharmgkbrs1057516691
gwascentralrs1057516691
openSNPrs1057516691
23andMers1057516691
23andMe allrs1057516691
SNPshotrs1057516691
SNPdbers1057516691
MSV3drs1057516691
GWAS Ctlgrs1057516691
Max Magnitude0
ClinVar
Risk rs1057516691(-;-)
Alt rs1057516691(-;-)
Reference Rs1057516691(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.51890034delG
CLNSRC
CLNACC RCV000411161.1,