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: rs17010957
rs17010957
2 4 85798012 intron variant T/A;C snv 0.700 1.000 3 2016 2018
dbSNP: rs2014912
rs2014912
1 4 85794517 intron variant T/C snv 0.84 0.700 1.000 3 2015 2017
dbSNP: rs12506184
rs12506184
1 4 85818748 intron variant A/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs17010961
rs17010961
1 4 85801950 intron variant T/A snv 0.14 0.700 1.000 1 2019 2019