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: rs2345443
rs2345443
3 16 78191736 intron variant A/C;G snv 0.700 1.000 2 2019 2019
dbSNP: rs1079572
rs1079572
1 16 78153241 intron variant G/A snv 0.57 0.700 1.000 1 2014 2014
dbSNP: rs12449066
rs12449066
1 16 79143396 intron variant A/C;G snv 0.700 1.000 1 2019 2019