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: rs606231451
rs606231451
TMEM240
2 0.925 0.120 1 1535372 missense variant G/A snv 0.810 1.000 3 2014 2018
dbSNP: rs606231453
rs606231453
TMEM240
1 1.000 0.080 1 1535616 missense variant G/A snv 1.3E-05 4.9E-05 0.800 1.000 3 2010 2017
dbSNP: rs606231454
rs606231454
TMEM240
1 1.000 0.080 1 1535723 missense variant G/A snv 3.8E-05 4.2E-05 0.800 1.000 3 2010 2017
dbSNP: rs606231455
rs606231455
TMEM240
1 1.000 0.080 1 1535370 missense variant G/A snv 2.1E-05 0.800 1.000 3 2010 2017
dbSNP: rs546291208
rs546291208
TMEM240
1 1.000 0.080 1 1535436 missense variant C/G;T snv 2.0E-05 2.1E-05 0.700 1.000 2 2014 2017
dbSNP: rs1045410944
rs1045410944
TMEM240
1 1.000 0.080 1 1535619 missense variant C/G;T snv 6.6E-06; 3.9E-05 0.700 0
dbSNP: rs606231452
rs606231452
TMEM240
1 1.000 0.080 1 1535392 stop gained G/A;C snv 0.700 0
dbSNP: rs864309664
rs864309664
SCYL1
1 1.000 0.080 11 65530715 frameshift variant G/- delins 0.700 0
dbSNP: rs864309665
rs864309665
SCYL1
1 1.000 0.080 11 65536073 frameshift variant TG/- delins 0.700 0
dbSNP: rs864309666
rs864309666
SCYL1
1 1.000 0.080 11 65532806 splice donor variant G/A snv 7.0E-06 0.700 0
dbSNP: rs864309667
rs864309667
SCYL1
1 1.000 0.080 11 65536319 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0