Variant: rs140869992 

    present in Gene: PKD1;MIR6511B1
    present in Chromosome: 16
    Position on Chromosome: 2108569
    Alleles of this Variant: G/A;T

rs140869992 in PKD1;MIR6511B1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

rs140869992 in PKD1;MIR6511B1 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.