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: rs12075079
rs12075079
2 1 172250855 intron variant A/G snv 0.16 0.700 1.000 2 2013 2019
dbSNP: rs12410416
rs12410416
1 1 172224680 intron variant T/C snv 0.17 0.700 1.000 2 2015 2019
dbSNP: rs12409899
rs12409899
1 1 172257871 intron variant C/G snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs17346452
rs17346452
2 1 172084147 intron variant T/C snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs17369123
rs17369123
1 1 172386701 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs186897198
rs186897198
1 1 172089746 intron variant T/C snv 7.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs2289635
rs2289635
1 1 172239480 intron variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2421992
rs2421992
2 1 172272111 intron variant C/T snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs34952786
rs34952786
1 1 172144188 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 0.25 0.700 1.000 1 2017 2017
dbSNP: rs609702
rs609702
1 1 172231515 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6694089
rs6694089
1 1 172114741 intron variant G/A snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs678962
rs678962
2 1 172220749 intron variant T/G snv 0.24 0.700 1.000 1 2008 2008