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: rs1234224
rs1234224
2 0.925 0.040 10 87915539 intron variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs17417230
rs17417230
1 1.000 0.040 3 65392536 intron variant C/A snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs790055
rs790055
1 1.000 0.040 1 161001356 splice region variant A/G snv 0.80 0.82 0.010 1.000 1 2018 2018