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: rs797045506
rs797045506
D2HGDH
1 1.000 0.120 2 241751274 frameshift variant T/- delins 0.700 0
dbSNP: rs797045507
rs797045507
D2HGDH
1 1.000 0.120 2 241756016 splice donor variant T/C snv 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