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rs1057516885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516885(-;-)
Make rs1057516885(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52024920
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516885
dbSNP (old)rs1057516885
ClinGenrs1057516885
ebirs1057516885
HLIrs1057516885
Exacrs1057516885
Gnomadrs1057516885
Varsomers1057516885
LitVarrs1057516885
Maprs1057516885
PheGenIrs1057516885
Biobankrs1057516885
1000 genomesrs1057516885
hgdprs1057516885
ensemblrs1057516885
gopubmedrs1057516885
geneviewrs1057516885
scholarrs1057516885
googlers1057516885
pharmgkbrs1057516885
gwascentralrs1057516885
openSNPrs1057516885
23andMers1057516885
23andMe allrs1057516885
SNPshotrs1057516885
SNPdbers1057516885
MSV3drs1057516885
GWAS Ctlgrs1057516885
Max Magnitude0
ClinVar
Risk rs1057516885(-;-)
Alt rs1057516885(-;-)
Reference Rs1057516885(G;G)
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.51889718delC
CLNSRC
CLNACC RCV000409945.1,