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: rs10168349
rs10168349
4 2 46133768 intron variant G/C snv 0.36 0.800 1.000 3 2009 2018
dbSNP: rs4953318
rs4953318
5 2 46127912 intron variant A/C snv 0.43 0.700 1.000 2 2012 2017
dbSNP: rs10495928
rs10495928
5 2 46126027 intron variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs114948639
rs114948639
3 2 46066687 intron variant C/T snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs13008603
rs13008603
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs17034641
rs17034641
3 2 46145505 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs17799476
rs17799476
2 2 46125187 intron variant C/G snv 0.13 0.700 1.000 1 2016 2016