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: rs1448187
rs1448187
1 2 111462782 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs17484848
rs17484848
2 2 111142983 intron variant T/C snv 7.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs72836346
rs72836346
1 2 111119036 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs7578982
rs7578982
4 2 111078961 intron variant T/C snv 0.27 0.700 1.000 1 2011 2011