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rs1057518783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518783(C;T)
Make rs1057518783(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2110081
GenePKD1
is asnp
is mentioned by
dbSNPrs1057518783
dbSNP (old)rs1057518783
ClinGenrs1057518783
ebirs1057518783
HLIrs1057518783
Exacrs1057518783
Gnomadrs1057518783
Varsomers1057518783
Maprs1057518783
PheGenIrs1057518783
Biobankrs1057518783
1000 genomesrs1057518783
hgdprs1057518783
ensemblrs1057518783
gopubmedrs1057518783
geneviewrs1057518783
scholarrs1057518783
googlers1057518783
pharmgkbrs1057518783
gwascentralrs1057518783
openSNPrs1057518783
23andMers1057518783
23andMe allrs1057518783
SNPshotrs1057518783
SNPdbers1057518783
MSV3drs1057518783
GWAS Ctlgrs1057518783
Max Magnitude0
ClinVar
Risk rs1057518783(T;T)
Alt rs1057518783(T;T)
Reference Rs1057518783(C;C)
Significance Pathogenic
Disease Polycystic kidney dysplasia
Variation info
Gene PKD1
CLNDBN Polycystic kidney dysplasia
Reversed 1
HGVS NC_000016.9:g.2160082G>A
CLNSRC
CLNACC RCV000414840.1,