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: rs113104107
rs113104107
2 11 44572621 intron variant AA/- del 0.30 0.700 1.000 1 2017 2017
dbSNP: rs60865046
rs60865046
2 11 44573061 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs934178
rs934178
2 11 44564383 upstream gene variant T/A;C snv 0.700 1.000 1 2019 2019