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rs1057517270

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517270(C;C)
Make rs1057517270(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52076274
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517270
dbSNP (old)rs1057517270
ClinGenrs1057517270
ebirs1057517270
HLIrs1057517270
Exacrs1057517270
Gnomadrs1057517270
Varsomers1057517270
LitVarrs1057517270
Maprs1057517270
PheGenIrs1057517270
Biobankrs1057517270
1000 genomesrs1057517270
hgdprs1057517270
ensemblrs1057517270
gopubmedrs1057517270
geneviewrs1057517270
scholarrs1057517270
googlers1057517270
pharmgkbrs1057517270
gwascentralrs1057517270
openSNPrs1057517270
23andMers1057517270
23andMe allrs1057517270
SNPshotrs1057517270
SNPdbers1057517270
MSV3drs1057517270
GWAS Ctlgrs1057517270
Max Magnitude0
ClinVar
Risk rs1057517270(C;C)
Alt rs1057517270(C;C)
Reference Rs1057517270(T;T)
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.51941072A>G
CLNSRC
CLNACC RCV000410878.1,