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rs1057516804

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516804(-;-)
Make rs1057516804(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51934140
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516804
dbSNP (old)rs1057516804
ClinGenrs1057516804
ebirs1057516804
HLIrs1057516804
Exacrs1057516804
Gnomadrs1057516804
Varsomers1057516804
Maprs1057516804
PheGenIrs1057516804
Biobankrs1057516804
1000 genomesrs1057516804
hgdprs1057516804
ensemblrs1057516804
gopubmedrs1057516804
geneviewrs1057516804
scholarrs1057516804
googlers1057516804
pharmgkbrs1057516804
gwascentralrs1057516804
openSNPrs1057516804
23andMers1057516804
23andMe allrs1057516804
SNPshotrs1057516804
SNPdbers1057516804
MSV3drs1057516804
GWAS Ctlgrs1057516804
Max Magnitude0
ClinVar
Risk rs1057516804(-;-)
Alt rs1057516804(-;-)
Reference Rs1057516804(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.51798938delC
CLNSRC
CLNACC RCV000412178.1,