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: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.800 1.000 7 2010 2019
dbSNP: rs12721046
rs12721046
8 19 44917997 intron variant G/A snv 0.11 0.700 1.000 2 2012 2012
dbSNP: rs438811
rs438811
5 19 44913484 non coding transcript exon variant C/T snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs56131196
rs56131196
6 0.925 0.160 19 44919589 downstream gene variant G/A snv 0.18 0.700 1.000 1 2018 2018