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: rs2222543
rs2222543
1 7 121262131 intron variant G/C snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs4731009
rs4731009
1 7 121264763 intron variant C/T snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs6942652
rs6942652
2 7 121249218 intron variant G/C;T snv 0.700 1.000 1 2019 2019