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rs1057518899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518899(C;T)
Make rs1057518899(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2111647
GenePKD1
is asnp
is mentioned by
dbSNPrs1057518899
dbSNP (old)rs1057518899
ClinGenrs1057518899
ebirs1057518899
HLIrs1057518899
Exacrs1057518899
Gnomadrs1057518899
Varsomers1057518899
LitVarrs1057518899
Maprs1057518899
PheGenIrs1057518899
Biobankrs1057518899
1000 genomesrs1057518899
hgdprs1057518899
ensemblrs1057518899
gopubmedrs1057518899
geneviewrs1057518899
scholarrs1057518899
googlers1057518899
pharmgkbrs1057518899
gwascentralrs1057518899
openSNPrs1057518899
23andMers1057518899
23andMe allrs1057518899
SNPshotrs1057518899
SNPdbers1057518899
MSV3drs1057518899
GWAS Ctlgrs1057518899
Max Magnitude0
ClinVar
Risk rs1057518899(T;T)
Alt rs1057518899(T;T)
Reference Rs1057518899(C;C)
Significance Pathogenic
Disease Hypertension Polycystic kidney dysplasia
Variation info
Gene PKD1
CLNDBN Hypertension Polycystic kidney dysplasia
Reversed 1
HGVS NC_000016.9:g.2161648G>A
CLNSRC
CLNACC RCV000415042.1,