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: rs1057519566
rs1057519566
MDH2
7 0.851 0.160 7 76063579 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567
MDH2
5 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796
MDH2
7 0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1195505218
rs1195505218
SLC25A22
4 0.925 0.040 11 792142 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1565035177
rs1565035177
SLC25A22
4 0.925 0.040 11 792146 frameshift variant CA/- delins 0.700 0
dbSNP: rs796053353
rs796053353
STXBP1
6 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
dbSNP: rs879253748
rs879253748
GABRA1
5 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0