Variant "CDKN2B-AS1:n.846+1734G>A"
Search result: 1 record
Variant information
Gene:
CDKN2B-AS1 
Variant:
CDKN2B-AS1:n.846+1734G>A 
Genomic location:
chr9:22034719(hg19) 
HGVS:
SO Term RefSeq
pseudogene NR_003529.3:n.846+1734G>A
pseudogene NR_047533.1:n.372-12031G>A
pseudogene NR_047539.1:n.846+1734G>A
pseudogene NR_047540.1:n.372-12031G>A
pseudogene NR_047541.1:n.372-12031G>A
pseudogene NR_047542.1:n.372-12031G>A
pseudogene NR_047532.1:n.533+5126G>A
pseudogene NR_047534.1:n.372-12031G>A
pseudogene NR_047535.1:n.372-12031G>A
pseudogene NR_047536.1:n.372-12031G>A
pseudogene NR_047537.1:n.372-12031G>A
pseudogene NR_047538.1:n.372-12031G>A
pseudogene NR_047543.1:n.372-12031G>A
pseudogene NR_120536.1:n.372-12031G>A
show all
dbSNP ID:
rs2151280  
GWAS trait:
basal cell carcinoma 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered gene activity(1)  
Detail：
  • Target disease:
    Neurofibromas (HP:0001067)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered gene activity 
    Evidence:
    P<0.001 
    Effect:
    The allele T of rs2151280 was statistically significantly associated with reduced ANRIL transcript levels (P < 0.001), suggesting that modulation of ANRIL expression mediates PNF susceptibility.
    Reference:
    PMID22034633
    Title:
    Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.
    Species studied:
    Human
    Abstract:
    Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome with a worldwide birth incidence of one in 2500. Genetic factors unrelated to the NF1 locus are thought to influence the number of plexiform neurofibromas (PNFs) in patients with NF1, but no factors have been identified to date.