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rs1057516608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516608(A;A)
Make rs1057516608(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52050244
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516608
dbSNP (classic)rs1057516608
ClinGenrs1057516608
ebirs1057516608
HLIrs1057516608
Exacrs1057516608
Gnomadrs1057516608
Varsomers1057516608
LitVarrs1057516608
Maprs1057516608
PheGenIrs1057516608
Biobankrs1057516608
1000 genomesrs1057516608
hgdprs1057516608
ensemblrs1057516608
geneviewrs1057516608
scholarrs1057516608
googlers1057516608
pharmgkbrs1057516608
gwascentralrs1057516608
openSNPrs1057516608
23andMers1057516608
23andMe allrs1057516608
SNPshotrs1057516608
SNPdbers1057516608
MSV3drs1057516608
GWAS Ctlgrs1057516608
Max Magnitude0
ClinVar
Risk rs1057516608(A;A)
Alt rs1057516608(A;A)
Reference Rs1057516608(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.51915042G>T
CLNSRC
CLNACC RCV000412139.1,