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: rs928413
rs928413
7 0.807 0.120 9 6213387 upstream gene variant G/A;C snv 0.800 1.000 3 2010 2019
dbSNP: rs146597587
rs146597587
1 1.000 0.080 9 6255967 splice acceptor variant G/C snv 2.2E-03 2.0E-03 0.720 1.000 3 2017 2019
dbSNP: rs7848215
rs7848215
3 0.925 0.080 9 6213468 upstream gene variant C/A;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs12339348
rs12339348
2 1.000 0.080 9 6233082 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17498196
rs17498196
2 1.000 0.080 9 6237547 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs2066362
rs2066362
2 1.000 0.080 9 6219176 intron variant G/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12551256
rs12551256
2 0.925 0.080 9 6231239 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs7044343
rs7044343
13 0.752 0.520 9 6254208 intron variant C/T snv 0.51 0.010 1.000 1 2018 2018