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: rs587779779
rs587779779
XAB2 ; PCP2 ; PET100
2 0.925 0.080 19 7631476 stop gained C/T snv 7.3E-06 0.700 1.000 1 2015 2015
dbSNP: rs1135402725
rs1135402725
PDHX
6 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs758265405
rs758265405
LONP1 ; RPL36
3 0.882 0.280 19 5692127 missense variant C/T snv 1.6E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs758802403
rs758802403
LONP1
3 0.882 0.280 19 5694510 missense variant C/T snv 2.0E-05 2.1E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs764931850
rs764931850
LONP1
3 0.882 0.280 19 5696750 missense variant A/G snv 0.010 < 0.001 1 2018 2018