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rs1057517006

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517006(-;C)
Make rs1057517006(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52082516
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517006
dbSNP (old)rs1057517006
ClinGenrs1057517006
ebirs1057517006
HLIrs1057517006
Exacrs1057517006
Gnomadrs1057517006
Varsomers1057517006
Maprs1057517006
PheGenIrs1057517006
Biobankrs1057517006
1000 genomesrs1057517006
hgdprs1057517006
ensemblrs1057517006
gopubmedrs1057517006
geneviewrs1057517006
scholarrs1057517006
googlers1057517006
pharmgkbrs1057517006
gwascentralrs1057517006
openSNPrs1057517006
23andMers1057517006
23andMe allrs1057517006
SNPshotrs1057517006
SNPdbers1057517006
MSV3drs1057517006
GWAS Ctlgrs1057517006
Max Magnitude0
ClinVar
Risk rs1057517006(C;C)
Alt rs1057517006(C;C)
Reference Rs1057517006(-;-)
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.51947315dupG
CLNSRC
CLNACC RCV000409595.1,