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rs1057516697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516697(-;-)
Make rs1057516697(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52073462
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516697
dbSNP (classic)rs1057516697
ClinGenrs1057516697
ebirs1057516697
HLIrs1057516697
Exacrs1057516697
Gnomadrs1057516697
Varsomers1057516697
LitVarrs1057516697
Maprs1057516697
PheGenIrs1057516697
Biobankrs1057516697
1000 genomesrs1057516697
hgdprs1057516697
ensemblrs1057516697
geneviewrs1057516697
scholarrs1057516697
googlers1057516697
pharmgkbrs1057516697
gwascentralrs1057516697
openSNPrs1057516697
23andMers1057516697
23andMe allrs1057516697
SNPshotrs1057516697
SNPdbers1057516697
MSV3drs1057516697
GWAS Ctlgrs1057516697
Max Magnitude0
ClinVar
Risk rs1057516697(-;-)
Alt rs1057516697(-;-)
Reference Rs1057516697(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.51938260delC
CLNSRC
CLNACC RCV000411065.1,