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: rs3768321
rs3768321
5 1.000 0.080 1 39570256 intron variant G/T snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs17513135
rs17513135
2 1.000 0.080 1 39570014 intron variant C/A;T snv 0.17 0.16 0.700 1.000 1 2019 2019