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rs1616940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 5 Polycystic Kidney Disease (predicted)
(T;T) 0 common/normal


Make rs1616940(C;C)
ReferenceGRCh38.p7 38.3/151
Chromosome16
Position2114843
GenePKD1
is asnp
is mentioned by
dbSNPrs1616940
dbSNP (classic)rs1616940
ClinGenrs1616940
ebirs1616940
HLIrs1616940
Exacrs1616940
Gnomadrs1616940
Varsomers1616940
LitVarrs1616940
Maprs1616940
PheGenIrs1616940
Biobankrs1616940
1000 genomesrs1616940
hgdprs1616940
ensemblrs1616940
geneviewrs1616940
scholarrs1616940
googlers1616940
pharmgkbrs1616940
gwascentralrs1616940
openSNPrs1616940
23andMers1616940
SNPshotrs1616940
SNPdbers1616940
MSV3drs1616940
GWAS Ctlgrs1616940
Max Magnitude5

NM_001009944.2:c.2180T>C

The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.