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rs1057516652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516652(-;-)
Make rs1057516652(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51659300
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs1057516652
dbSNP (classic)rs1057516652
ClinGenrs1057516652
ebirs1057516652
HLIrs1057516652
Exacrs1057516652
Gnomadrs1057516652
Varsomers1057516652
LitVarrs1057516652
Maprs1057516652
PheGenIrs1057516652
Biobankrs1057516652
1000 genomesrs1057516652
hgdprs1057516652
ensemblrs1057516652
geneviewrs1057516652
scholarrs1057516652
googlers1057516652
pharmgkbrs1057516652
gwascentralrs1057516652
openSNPrs1057516652
23andMers1057516652
23andMe allrs1057516652
SNPshotrs1057516652
SNPdbers1057516652
MSV3drs1057516652
GWAS Ctlgrs1057516652
Max Magnitude0
ClinVar
Risk rs1057516652(-;-)
Alt rs1057516652(-;-)
Reference Rs1057516652(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.51524098delT
CLNSRC
CLNACC RCV000409127.1,