Annotation Detail

Information
Associated Genes
SLC25A20
Associated Variants
TP53 p.Pro72Arg (p.P72R) ( ENST00000359597.8, ENST00000413465.6, ENST00000604348.6, ENST00000269305.9, ENST00000455263.6, ENST00000420246.6, ENST00000445888.6, ENST00000576024.2, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Pro72His (p.P72H) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 c.-28-3143C>T ( ENST00000610292.4, ENST00000610538.4, ENST00000269305.9, ENST00000622645.4, ENST00000420246.6, ENST00000714359.1, ENST00000604348.6, ENST00000714409.1, ENST00000619485.4, ENST00000620739.4, ENST00000455263.6, ENST00000714408.1, ENST00000576024.2, ENST00000445888.6 )
TP53 c.-29+1384C>G ( ENST00000714409.1, ENST00000604348.6, ENST00000714359.1, ENST00000420246.6, ENST00000622645.4, ENST00000269305.9, ENST00000610538.4, ENST00000610292.4, ENST00000445888.6, ENST00000714408.1, ENST00000576024.2, ENST00000455263.6, ENST00000619485.4, ENST00000620739.4 )
TP53 p.Pro72Arg (p.P72R) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Pro72His (p.P72H) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 c.-28-3143C>T ( ENST00000269305.9, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 c.-29+1384C>G ( ENST00000269305.9, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
Associated Disease
schizophrenia
Source Database
DisGeNET
Description
Though rs1042522 and rs8064946 did not show positive association with schizophrenia, we did observe statistically significant differences on SNP rs2078486 (P-value = 0.029; OR = 1.21; 95% CI 1.02-1.42) and on haplotype CAC (P-value = 0.0068; OR = 1.36; 95% CI 1.09-1.70).
Pubmed
15450681
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2004
Drugs