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: rs11624512
rs11624512
5 14 92644775 non coding transcript exon variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs117068593
rs117068593
4 14 92651884 missense variant C/T snv 0.13 0.11 0.700 1.000 1 2019 2019
dbSNP: rs61975764
rs61975764
1 14 92548584 intron variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs72699818
rs72699818
4 14 92611266 intron variant T/C snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs72699866
rs72699866
4 14 92648442 intron variant G/A snv 0.14 0.700 1.000 1 2016 2016