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rs1057516263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516263(-;T)
Make rs1057516263(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52025216
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516263
dbSNP (old)rs1057516263
ClinGenrs1057516263
ebirs1057516263
HLIrs1057516263
Exacrs1057516263
Gnomadrs1057516263
Varsomers1057516263
LitVarrs1057516263
Maprs1057516263
PheGenIrs1057516263
Biobankrs1057516263
1000 genomesrs1057516263
hgdprs1057516263
ensemblrs1057516263
gopubmedrs1057516263
geneviewrs1057516263
scholarrs1057516263
googlers1057516263
pharmgkbrs1057516263
gwascentralrs1057516263
openSNPrs1057516263
23andMers1057516263
23andMe allrs1057516263
SNPshotrs1057516263
SNPdbers1057516263
MSV3drs1057516263
GWAS Ctlgrs1057516263
Max Magnitude0
ClinVar
Risk rs1057516263(T;T)
Alt rs1057516263(T;T)
Reference Rs1057516263(-;-)
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.51890015dupA
CLNSRC
CLNACC RCV000411034.1,