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rs1057516407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516407(A;G)
Make rs1057516407(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51960028
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516407
dbSNP (old)rs1057516407
ClinGenrs1057516407
ebirs1057516407
HLIrs1057516407
Exacrs1057516407
Gnomadrs1057516407
Varsomers1057516407
Maprs1057516407
PheGenIrs1057516407
Biobankrs1057516407
1000 genomesrs1057516407
hgdprs1057516407
ensemblrs1057516407
gopubmedrs1057516407
geneviewrs1057516407
scholarrs1057516407
googlers1057516407
pharmgkbrs1057516407
gwascentralrs1057516407
openSNPrs1057516407
23andMers1057516407
23andMe allrs1057516407
SNPshotrs1057516407
SNPdbers1057516407
MSV3drs1057516407
GWAS Ctlgrs1057516407
Max Magnitude0
ClinVar
Risk rs1057516407(G;G)
Alt rs1057516407(G;G)
Reference Rs1057516407(A;A)
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.51824826T>C
CLNSRC
CLNACC RCV000409067.1,