Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057518952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518952(-;G)
Make rs1057518952(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52024728
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057518952
dbSNP (old)rs1057518952
ClinGenrs1057518952
ebirs1057518952
HLIrs1057518952
Exacrs1057518952
Gnomadrs1057518952
Varsomers1057518952
Maprs1057518952
PheGenIrs1057518952
Biobankrs1057518952
1000 genomesrs1057518952
hgdprs1057518952
ensemblrs1057518952
gopubmedrs1057518952
geneviewrs1057518952
scholarrs1057518952
googlers1057518952
pharmgkbrs1057518952
gwascentralrs1057518952
openSNPrs1057518952
23andMers1057518952
23andMe allrs1057518952
SNPshotrs1057518952
SNPdbers1057518952
MSV3drs1057518952
GWAS Ctlgrs1057518952
Max Magnitude0
ClinVar
Risk rs1057518952(G;G)
Alt rs1057518952(G;G)
Reference Rs1057518952(-;-)
Significance Pathogenic
Disease Polycystic kidney dysplasia Renal cyst Ventricular hypertrophy
Variation info
Gene PKHD1
CLNDBN Polycystic kidney dysplasia Renal cyst Ventricular hypertrophy
Reversed 1
HGVS NC_000006.11:g.51889527dupC
CLNSRC
CLNACC RCV000414774.1,