Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CYP7A1

Gene name: cytochrome P450, family 7, subfamily A, polypeptide 1
OMIM ID: 118455
Chromosome location: 8q12.1

Polymorphisms

Disease/PhenotypeMycobacterium tuberculosis, susceptibility to
Reference transcriptNM_000780.3
DNA Changec.-267C>A (-278 A>C)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs3808607
Cases136
Controls138
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A65%54%1
C35%46%1.58 (1.04-2.41)0.025
AA43%28%1.94 (1.03-3.65)0.026
AC44%52%>0.05
CC13%20%>0.05
ReferenceQrafli M, Amar Y, Bourkadi J, Ben Amor J, Iraki G, Bakri Y, Amzazi S, Lahlou O, Seghrouchni F, El Aouad R, Sadki K. The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.
Pan Afr Med J. 2014 May 1;18:1.

Disease/PhenotypeMycobacterium tuberculosis, susceptibility to
Reference transcriptNC_000008.10
DNA Changeg.59403576C>T (c.*458G>A)
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs8192879
Cases136
Controls138
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C72.79%75.72%>0.05
T27.21%24.28%>0.05
CC50.73%59.42%>0.05
CT44.11%32.6%>0.05
TT5.14%7.97%>0.05
ReferenceQrafli M, Amar Y, Bourkadi J, Ben Amor J, Iraki G, Bakri Y, Amzazi S, Lahlou O, Seghrouchni F, El Aouad R, Sadki K. The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.
Pan Afr Med J. 2014 May 1;18:1.

Disease/PhenotypeMycobacterium tuberculosis, susceptibility to
Reference transcriptNC_000008.10
DNA Changeg.59407065C>T
A.A. Changep.Asp347Asn
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs8192875
Cases136
Controls138
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C100%100%>0.05
T0%0%>0.05
CC100%100%>0.05
CT0%0%>0.05
TT0%0%>0.05
ReferenceQrafli M, Amar Y, Bourkadi J, Ben Amor J, Iraki G, Bakri Y, Amzazi S, Lahlou O, Seghrouchni F, El Aouad R, Sadki K. The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.
Pan Afr Med J. 2014 May 1;18:1.