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rs28937907(C;T)

From SNPedia

carrier of a possible polycystic kidney disease allele
Is agenotype
ofrs28937907
GenePKHD1
Chromosome6
Position52,024,819
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a possible polycystic kidney disease allele
(T;T) 6 possible polycystic kidney disease

It is unclear if this risk allele (T) has been seen leading to polycystic kidney disease (when present in homozygous or compound heterozygous form) in more than one patient. Please feel free to contact SNPedia if you have additional information about this allele.