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rs1057518976

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518976(A;G)
Make rs1057518976(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2111382
GenePKD1
is asnp
is mentioned by
dbSNPrs1057518976
dbSNP (old)rs1057518976
ClinGenrs1057518976
ebirs1057518976
HLIrs1057518976
Exacrs1057518976
Gnomadrs1057518976
Varsomers1057518976
Maprs1057518976
PheGenIrs1057518976
Biobankrs1057518976
1000 genomesrs1057518976
hgdprs1057518976
ensemblrs1057518976
gopubmedrs1057518976
geneviewrs1057518976
scholarrs1057518976
googlers1057518976
pharmgkbrs1057518976
gwascentralrs1057518976
openSNPrs1057518976
23andMers1057518976
23andMe allrs1057518976
SNPshotrs1057518976
SNPdbers1057518976
MSV3drs1057518976
GWAS Ctlgrs1057518976
Max Magnitude0
ClinVar
Risk rs1057518976(G;G)
Alt rs1057518976(G;G)
Reference Rs1057518976(A;A)
Significance Probable-Pathogenic
Disease Abnormality of the kidney Multicystic kidney dysplasia Polycystic kidney dysplasia
Variation info
Gene PKD1
CLNDBN Abnormality of the kidney Multicystic kidney dysplasia Polycystic kidney dysplasia
Reversed 1
HGVS NC_000016.9:g.2161383T>C
CLNSRC
CLNACC RCV000415037.1,