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: rs117656550
rs117656550
1 5 1068885 intron variant G/A snv 9.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs13181874
rs13181874
1 5 1112757 upstream gene variant G/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs4535497
rs4535497
1 5 1107313 intron variant C/A snv 0.48 0.700 1.000 1 2017 2017
dbSNP: rs4580814
rs4580814
2 5 1113129 upstream gene variant G/T snv 0.47 0.700 1.000 1 2010 2010
dbSNP: rs56287436
rs56287436
2 5 1080019 intron variant G/A snv 0.32 0.700 1.000 1 2018 2018