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: rs183758503
rs183758503
SPAG17
5 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.710 1.000 1 2018 2018
dbSNP: rs200140363
rs200140363
WDR35
5 0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05 0.710 1.000 1 2018 2018
dbSNP: rs192669225
rs192669225
AMPD2
3 0.925 0.040 1 109628692 missense variant G/A snv 0.700 0
dbSNP: rs137853044
rs137853044
TUBA1A
2 1.000 0.240 12 49185161 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs587784483
rs587784483
TUBA1A
3 0.925 0.320 12 49185162 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs80358214
rs80358214
GLUL
2 1.000 0.080 1 182384557 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs80358215
rs80358215
GLUL
2 1.000 0.080 1 182384506 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016