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: rs10801582
rs10801582
2 1 196975227 upstream gene variant G/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs12116643
rs12116643
3 1 197004053 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs12755054
rs12755054
2 1.000 0.040 1 196977900 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1750311
rs1750311
2 1.000 0.040 1 196985095 intron variant C/A snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs1759016
rs1759016
2 1.000 0.040 1 196983368 intron variant C/T snv 0.43 0.700 1.000 1 2013 2013