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rs1057516382

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516382(-;-)
Make rs1057516382(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52025253
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516382
dbSNP (old)rs1057516382
ClinGenrs1057516382
ebirs1057516382
HLIrs1057516382
Exacrs1057516382
Gnomadrs1057516382
Varsomers1057516382
Maprs1057516382
PheGenIrs1057516382
Biobankrs1057516382
1000 genomesrs1057516382
hgdprs1057516382
ensemblrs1057516382
gopubmedrs1057516382
geneviewrs1057516382
scholarrs1057516382
googlers1057516382
pharmgkbrs1057516382
gwascentralrs1057516382
openSNPrs1057516382
23andMers1057516382
23andMe allrs1057516382
SNPshotrs1057516382
SNPdbers1057516382
MSV3drs1057516382
GWAS Ctlgrs1057516382
Max Magnitude0
ClinVar
Risk rs1057516382(-;-)
Alt rs1057516382(-;-)
Reference Rs1057516382(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.51890051delA
CLNSRC
CLNACC RCV000412113.1,