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: rs368647424
rs368647424
SLC25A1
1 1.000 0.120 22 19177779 missense variant C/T snv 3.7E-05 1.4E-05 0.800 0
dbSNP: rs431905509
rs431905509
SLC25A1
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.800 0
dbSNP: rs431905510
rs431905510
SLC25A1
1 1.000 0.120 22 19176221 missense variant C/G;T snv 8.0E-06 0.800 0
dbSNP: rs781925968
rs781925968
SLC25A1
1 1.000 0.120 22 19176899 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 7 2013 2018
dbSNP: rs782335811
rs782335811
SLC25A1
1 1.000 0.120 22 19176872 missense variant A/G snv 4.0E-06 1.4E-05 0.700 1.000 7 2013 2018
dbSNP: rs1331417017
rs1331417017
SLC25A1
1 1.000 0.120 22 19176884 missense variant C/T snv 0.700 0
dbSNP: rs483352910
rs483352910
SLC25A1
1 1.000 0.120 22 19176421 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs483352911
rs483352911
SLC25A1
1 1.000 0.120 22 19177120 frameshift variant TTGTTCCCGC/- delins 2.8E-05 2.8E-05 0.700 0
dbSNP: rs121434362
rs121434362
D2HGDH
3 0.882 0.120 2 241767718 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121913502
rs121913502
IDH2
19 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs267606759
rs267606759
D2HGDH
3 0.882 0.120 2 241751371 missense variant G/A;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs267606870
rs267606870
IDH2
11 0.763 0.280 15 90088703 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2006 2006
dbSNP: rs970541687
rs970541687
L2HGDH
2 0.925 0.120 14 50302917 missense variant T/C snv 0.010 1.000 1 2014 2014