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rs200520583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Polycystic Kidney Disease (predicted)
(G;G) 0 common/normal


Make rs200520583(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome16
Position2102857
GenePKD1
is asnp
is mentioned by
dbSNPrs200520583
dbSNP (old)rs200520583
ClinGenrs200520583
ebirs200520583
HLIrs200520583
Exacrs200520583
Gnomadrs200520583
Varsomers200520583
Maprs200520583
PheGenIrs200520583
Biobankrs200520583
1000 genomesrs200520583
hgdprs200520583
ensemblrs200520583
gopubmedrs200520583
geneviewrs200520583
scholarrs200520583
googlers200520583
pharmgkbrs200520583
gwascentralrs200520583
openSNPrs200520583
23andMers200520583
23andMe allrs200520583
SNPshotrs200520583
SNPdbers200520583
MSV3drs200520583
GWAS Ctlgrs200520583
Max Magnitude5

c.8905C>T (p.Gln2969Ter)

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.