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rs1057518969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057518969(-;-)
Make rs1057518969(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position88036325
GenePKD2
is asnp
is mentioned by
dbSNPrs1057518969
dbSNP (classic)rs1057518969
ClinGenrs1057518969
ebirs1057518969
HLIrs1057518969
Exacrs1057518969
Gnomadrs1057518969
Varsomers1057518969
LitVarrs1057518969
Maprs1057518969
PheGenIrs1057518969
Biobankrs1057518969
1000 genomesrs1057518969
hgdprs1057518969
ensemblrs1057518969
geneviewrs1057518969
scholarrs1057518969
googlers1057518969
pharmgkbrs1057518969
gwascentralrs1057518969
openSNPrs1057518969
23andMers1057518969
23andMe allrs1057518969
SNPshotrs1057518969
SNPdbers1057518969
MSV3drs1057518969
GWAS Ctlgrs1057518969
Max Magnitude0
ClinVar
Risk rs1057518969(-;-)
Alt rs1057518969(-;-)
Reference Rs1057518969(CT;CT)
Significance Pathogenic
Disease Elevated diastolic blood pressure Elevated systolic blood pressure Polycystic kidney dysplasia
Variation info
Gene PKD2
CLNDBN Elevated diastolic blood pressure Elevated systolic blood pressure Polycystic kidney dysplasia
Reversed 0
HGVS NC_000004.11:g.88957477_88957478delCT
CLNSRC
CLNACC RCV000415136.1,