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: rs138151052
rs138151052
2 4 68484175 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs969114
rs969114
1 4 68472593 intron variant A/G snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs976002
rs976002
1 4 68477569 missense variant A/G snv 0.23 0.23 0.700 1.000 1 2017 2017