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rs1057516041

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516041(A;A)
Make rs1057516041(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2094127
GeneLOC105371049, PKD1
is asnp
is mentioned by
dbSNPrs1057516041
dbSNP (old)rs1057516041
ClinGenrs1057516041
ebirs1057516041
HLIrs1057516041
Exacrs1057516041
Gnomadrs1057516041
Varsomers1057516041
Maprs1057516041
PheGenIrs1057516041
Biobankrs1057516041
1000 genomesrs1057516041
hgdprs1057516041
ensemblrs1057516041
gopubmedrs1057516041
geneviewrs1057516041
scholarrs1057516041
googlers1057516041
pharmgkbrs1057516041
gwascentralrs1057516041
openSNPrs1057516041
23andMers1057516041
23andMe allrs1057516041
SNPshotrs1057516041
SNPdbers1057516041
MSV3drs1057516041
GWAS Ctlgrs1057516041
Max Magnitude0
ClinVar
Risk rs1057516041(A;A)
Alt rs1057516041(A;A)
Reference Rs1057516041(G;G)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKD1 LOC105371049
CLNDBN Polycystic kidney disease, adult type
Reversed 1
HGVS NC_000016.9:g.2144128C>T
CLNSRC
CLNACC RCV000408619.1,