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: rs714052
rs714052
4 0.925 0.120 7 73450539 intron variant A/G snv 9.2E-02 0.800 1.000 5 2009 2019
dbSNP: rs1178979
rs1178979
6 0.925 0.120 7 73442100 3 prime UTR variant T/C snv 0.21 0.800 1.000 2 2010 2019
dbSNP: rs2074755
rs2074755
20 0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 0.800 1.000 2 2012 2016
dbSNP: rs2240466
rs2240466
4 0.925 0.120 7 73441939 3 prime UTR variant G/A snv 9.2E-02 0.800 1.000 2 2009 2019
dbSNP: rs13231516
rs13231516
2 7 73448919 intron variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs1178977
rs1178977
7 0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21 0.700 1.000 1 2017 2017
dbSNP: rs12056034
rs12056034
5 0.882 0.160 7 73464315 intron variant A/G snv 9.2E-02 0.700 1.000 1 2008 2008
dbSNP: rs17145713
rs17145713
6 0.925 0.120 7 73490480 intron variant C/T snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs7811265
rs7811265
7 0.925 0.120 7 73520180 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018