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rs1057516588

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516588(G;T)
Make rs1057516588(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51883092
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516588
dbSNP (old)rs1057516588
ClinGenrs1057516588
ebirs1057516588
HLIrs1057516588
Exacrs1057516588
Gnomadrs1057516588
Varsomers1057516588
Maprs1057516588
PheGenIrs1057516588
Biobankrs1057516588
1000 genomesrs1057516588
hgdprs1057516588
ensemblrs1057516588
gopubmedrs1057516588
geneviewrs1057516588
scholarrs1057516588
googlers1057516588
pharmgkbrs1057516588
gwascentralrs1057516588
openSNPrs1057516588
23andMers1057516588
23andMe allrs1057516588
SNPshotrs1057516588
SNPdbers1057516588
MSV3drs1057516588
GWAS Ctlgrs1057516588
Max Magnitude0
ClinVar
Risk rs1057516588(T;T)
Alt rs1057516588(T;T)
Reference Rs1057516588(G;G)
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.51747890C>A
CLNSRC
CLNACC RCV000411686.1,