PRRC2A, proline rich coiled-coil 2A, 7916

N. diseases: 45; N. variants: 32
Disease: Malignant neoplasm of lung ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1246463849
rs1246463849
Entrez Id: 7916
Gene Symbol: PRRC2A
PRRC2A
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE We identified three low-frequency missense variants in BAT2 (rs9469031, c.1544C>T [p.Pro515Leu]; odds ratio [OR] = 0.55, p = 1.28 × 10(-10)), FKBPL (rs200847762, c.410C>T [p.Pro137Leu]; OR = 0.25, p = 9.79 × 10(-12)), and BPIFB1 (rs6141383, c.850G>A [p.Val284Met]; OR = 1.72, p = 1.79 × 10(-7)); these variants were associated with lung cancer risk. rs9469031 in BAT2 and rs6141383 in BPIFB1 were also associated with the age of onset of lung cancer (p = 0.001 and 0.006, respectively). 25937444 2015
dbSNP: rs9469031
rs9469031
Entrez Id: 7916
Gene Symbol: PRRC2A
PRRC2A
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE We identified three low-frequency missense variants in BAT2 (rs9469031, c.1544C>T [p.Pro515Leu]; odds ratio [OR] = 0.55, p = 1.28 × 10(-10)), FKBPL (rs200847762, c.410C>T [p.Pro137Leu]; OR = 0.25, p = 9.79 × 10(-12)), and BPIFB1 (rs6141383, c.850G>A [p.Val284Met]; OR = 1.72, p = 1.79 × 10(-7)); these variants were associated with lung cancer risk. rs9469031 in BAT2 and rs6141383 in BPIFB1 were also associated with the age of onset of lung cancer (p = 0.001 and 0.006, respectively). 25937444 2015