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: rs1812175
rs1812175
6 4 144653692 intron variant A/G snv 0.79 0.700 1.000 4 2008 2019
dbSNP: rs7689420
rs7689420
7 0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79 0.700 1.000 3 2010 2019
dbSNP: rs6845999
rs6845999
2 4 144644674 intron variant C/T snv 0.35 0.700 1.000 2 2015 2019
dbSNP: rs13106087
rs13106087
1 4 144645712 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs13125694
rs13125694
1 4 144645696 intron variant C/T snv 0.34 0.700 1.000 1 2019 2019