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rs1057516594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516594(-;-)
Make rs1057516594(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52025689
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516594
dbSNP (old)rs1057516594
ClinGenrs1057516594
ebirs1057516594
HLIrs1057516594
Exacrs1057516594
Gnomadrs1057516594
Varsomers1057516594
LitVarrs1057516594
Maprs1057516594
PheGenIrs1057516594
Biobankrs1057516594
1000 genomesrs1057516594
hgdprs1057516594
ensemblrs1057516594
gopubmedrs1057516594
geneviewrs1057516594
scholarrs1057516594
googlers1057516594
pharmgkbrs1057516594
gwascentralrs1057516594
openSNPrs1057516594
23andMers1057516594
23andMe allrs1057516594
SNPshotrs1057516594
SNPdbers1057516594
MSV3drs1057516594
GWAS Ctlgrs1057516594
Max Magnitude0
ClinVar
Risk rs1057516594(-;-)
Alt rs1057516594(-;-)
Reference Rs1057516594(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.51890487delC
CLNSRC
CLNACC RCV000410082.1,