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: rs119461976
rs119461976
SECISBP2
1 1.000 0.040 9 89348095 missense variant G/A snv 1.2E-05 0.800 0
dbSNP: rs119461977
rs119461977
SECISBP2
1 1.000 0.040 9 89341356 stop gained A/G;T snv 1.2E-05 0.700 0
dbSNP: rs730880269
rs730880269
SECISBP2
1 1.000 0.040 9 89338609 intron variant G/A snv 0.700 0
dbSNP: rs879255589
rs879255589
ERCC1
1 1.000 0.040 19 45478610 intron variant G/A;C snv 0.700 0
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2018 2018