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: rs375002796
rs375002796
MDH2
7 0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 0.800 1.000 1 2017 2017
dbSNP: rs782308462
rs782308462
MDH2
1 1.000 7 76054872 missense variant G/A snv 8.0E-06 0.800 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566
MDH2
7 0.851 0.160 7 76063579 missense variant C/T snv 0.800 0
dbSNP: rs1057519567
rs1057519567
MDH2
5 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 0