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rs2432403

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 5 Polycystic Kidney Disease (predicted)
Make rs2432403(T;T)
ReferenceGRCh38.p7 38.3/151
Chromosome16
Position2106599
GeneMIR6511B1, PKD1
is asnp
is mentioned by
dbSNPrs2432403
dbSNP (classic)rs2432403
ClinGenrs2432403
ebirs2432403
HLIrs2432403
Exacrs2432403
Gnomadrs2432403
Varsomers2432403
LitVarrs2432403
Maprs2432403
PheGenIrs2432403
Biobankrs2432403
1000 genomesrs2432403
hgdprs2432403
ensemblrs2432403
geneviewrs2432403
scholarrs2432403
googlers2432403
pharmgkbrs2432403
gwascentralrs2432403
openSNPrs2432403
23andMers2432403
SNPshotrs2432403
SNPdbers2432403
MSV3drs2432403
GWAS Ctlgrs2432403
Max Magnitude5

NM_001009944.2:c.7288C>T

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.