Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs746155190
rs746155190
SLC25A13
1 1.000 0.120 7 96189654 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs80338727
rs80338727
SLC25A13
2 0.925 0.120 7 96121695 stop gained C/A;T snv 0.700 1.000 1 2002 2002
dbSNP: rs879255504
rs879255504
SLC25A13
1 1.000 0.120 7 96193157 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1060499612
rs1060499612
SLC25A13
2 0.925 0.120 7 96208837 splice donor variant C/G snv 7.0E-06 0.700 0
dbSNP: rs1562774655
rs1562774655
SLC25A13
1 1.000 0.120 7 96121924 frameshift variant -/CCGGGCAGCCACCTGTAATCTCC delins 0.700 0
dbSNP: rs1562831765
rs1562831765
SLC25A13
1 1.000 0.120 7 96193159 stop gained G/A snv 0.700 0
dbSNP: rs80338717
rs80338717
SLC25A13
3 0.882 0.120 7 96193032 splice region variant C/T snv 1.1E-04 2.8E-05 0.700 0
dbSNP: rs80338719
rs80338719
SLC25A13
3 0.882 0.120 7 96191189 stop gained G/A;T snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs80338720
rs80338720
SLC25A13
3 0.882 0.120 7 96189372 frameshift variant ATAC/- delins 0.700 0
dbSNP: rs80338722
rs80338722
SLC25A13
3 0.882 0.120 7 96184276 splice donor variant C/T snv 4.8E-05 1.4E-05 0.700 0
dbSNP: rs80338725
rs80338725
SLC25A13
3 0.882 0.120 7 96121928 frameshift variant -/CCCGGGCAGCCACCTGTAATCTC delins 8.8E-05 1.4E-05 0.700 0
dbSNP: rs80338726
rs80338726
SLC25A13
3 0.882 0.120 7 96121696 stop gained -/T;TTT delins 2.8E-05; 2.4E-05; 8.0E-06 0.700 0
dbSNP: rs6957975
rs6957975
SLC25A13
1 1.000 0.120 7 96234796 splice region variant T/C snv 0.62 0.67 0.010 1.000 1 2012 2012