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: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.750 1.000 6 2011 2019
dbSNP: rs67180937
rs67180937
1 1.000 0.040 1 222650401 intron variant T/C;G snv 0.64 0.700 1.000 2 2015 2017
dbSNP: rs17465982
rs17465982
1 1.000 0.040 1 222664597 intron variant G/A snv 0.57 0.700 1.000 1 2018 2018
dbSNP: rs2133189
rs2133189
2 0.925 0.040 1 222641100 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs35158675
rs35158675
1 1.000 0.040 1 222656208 intron variant G/A;C snv 0.700 1.000 1 2018 2018