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rs1057516692

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516692(C;T)
Make rs1057516692(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52017558
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516692
dbSNP (old)rs1057516692
ClinGenrs1057516692
ebirs1057516692
HLIrs1057516692
Exacrs1057516692
Gnomadrs1057516692
Varsomers1057516692
Maprs1057516692
PheGenIrs1057516692
Biobankrs1057516692
1000 genomesrs1057516692
hgdprs1057516692
ensemblrs1057516692
gopubmedrs1057516692
geneviewrs1057516692
scholarrs1057516692
googlers1057516692
pharmgkbrs1057516692
gwascentralrs1057516692
openSNPrs1057516692
23andMers1057516692
23andMe allrs1057516692
SNPshotrs1057516692
SNPdbers1057516692
MSV3drs1057516692
GWAS Ctlgrs1057516692
Max Magnitude0
ClinVar
Risk rs1057516692(T;T)
Alt rs1057516692(T;T)
Reference Rs1057516692(C;C)
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.51882356G>A
CLNSRC
CLNACC RCV000409181.1,