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rs566014072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs566014072(A;A)
Make rs566014072(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2110321
GenePKD1
is asnp
is mentioned by
dbSNPrs566014072
dbSNP (classic)rs566014072
ClinGenrs566014072
ebirs566014072
HLIrs566014072
Exacrs566014072
Gnomadrs566014072
Varsomers566014072
LitVarrs566014072
Maprs566014072
PheGenIrs566014072
Biobankrs566014072
1000 genomesrs566014072
hgdprs566014072
ensemblrs566014072
geneviewrs566014072
scholarrs566014072
googlers566014072
pharmgkbrs566014072
gwascentralrs566014072
openSNPrs566014072
23andMers566014072
SNPshotrs566014072
SNPdbers566014072
MSV3drs566014072
GWAS Ctlgrs566014072
Max Magnitude0
ClinVar
Risk rs566014072(A;A) rs566014072(G;G) rs566014072(T;T)
Alt rs566014072(A;A) rs566014072(G;G) rs566014072(T;T)
Reference Rs566014072(C;C)
Significance Probable-Pathogenic
Disease 3-4 toe syndactyly Moderate sensorineural hearing impairment Polycystic kidney dysplasia
Variation info
Gene PKD1
CLNDBN 3-4 toe syndactyly Moderate sensorineural hearing impairment Polycystic kidney dysplasia
Reversed 0
HGVS NC_000016.9:g.2160322C>A
CLNSRC
CLNACC RCV000415375.1,