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rs1057516206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 5 Polycystic Kidney Disease (predicted)
(T;T) 0 common in clinvar


Make rs1057516206(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2111624
GenePKD1
is asnp
is mentioned by
dbSNPrs1057516206
dbSNP (old)rs1057516206
ClinGenrs1057516206
ebirs1057516206
HLIrs1057516206
Exacrs1057516206
Gnomadrs1057516206
Varsomers1057516206
LitVarrs1057516206
Maprs1057516206
PheGenIrs1057516206
Biobankrs1057516206
1000 genomesrs1057516206
hgdprs1057516206
ensemblrs1057516206
gopubmedrs1057516206
geneviewrs1057516206
scholarrs1057516206
googlers1057516206
pharmgkbrs1057516206
gwascentralrs1057516206
openSNPrs1057516206
23andMers1057516206
23andMe allrs1057516206
SNPshotrs1057516206
SNPdbers1057516206
MSV3drs1057516206
GWAS Ctlgrs1057516206
Max Magnitude5

c.3543T>A (p.Tyr1181Ter)


ClinVar
Risk rs1057516206(A;A)
Alt rs1057516206(A;A)
Reference Rs1057516206(T;T)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKD1
CLNDBN Polycystic kidney disease, adult type
Reversed 1
HGVS NC_000016.9:g.2161625A>T
CLNSRC
CLNACC RCV000408798.1,