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rs1057517078

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517078(-;-)
Make rs1057517078(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51867883
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517078
dbSNP (old)rs1057517078
ClinGenrs1057517078
ebirs1057517078
HLIrs1057517078
Exacrs1057517078
Gnomadrs1057517078
Varsomers1057517078
LitVarrs1057517078
Maprs1057517078
PheGenIrs1057517078
Biobankrs1057517078
1000 genomesrs1057517078
hgdprs1057517078
ensemblrs1057517078
gopubmedrs1057517078
geneviewrs1057517078
scholarrs1057517078
googlers1057517078
pharmgkbrs1057517078
gwascentralrs1057517078
openSNPrs1057517078
23andMers1057517078
23andMe allrs1057517078
SNPshotrs1057517078
SNPdbers1057517078
MSV3drs1057517078
GWAS Ctlgrs1057517078
Max Magnitude0
ClinVar
Risk rs1057517078(-;-)
Alt rs1057517078(-;-)
Reference Rs1057517078(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.51732681delA
CLNSRC
CLNACC RCV000408992.1,