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: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.890 1.000 13 2008 2019
dbSNP: rs2618476
rs2618476
BLK
2 0.925 0.160 8 11495032 intron variant T/C snv 0.26 0.800 1.000 1 2008 2008
dbSNP: rs2248932
rs2248932
BLK
3 0.882 0.160 8 11534141 intron variant A/G snv 0.60 0.720 1.000 4 2008 2011
dbSNP: rs2736345
rs2736345
BLK
3 0.882 0.280 8 11494976 intron variant A/G snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs1307379746
rs1307379746
1 1.000 0.080 8 11556804 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs141865425
rs141865425
1 1.000 0.080 8 11555425 missense variant G/A snv 3.1E-03 3.0E-03 0.700 0
dbSNP: rs146505280
rs146505280
BLK
1 1.000 0.080 8 11561347 missense variant C/T snv 8.6E-04 6.4E-04 0.700 0
dbSNP: rs73663163
rs73663163
BLK
1 1.000 0.080 8 11550181 missense variant C/A;G;T snv 2.0E-03; 5.2E-04 0.700 0
dbSNP: rs758750492
rs758750492
BLK
1 1.000 0.080 8 11561320 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs4840568
rs4840568
BLK
4 0.882 0.160 8 11493510 intron variant G/A snv 0.32 0.020 1.000 2 2012 2017
dbSNP: rs1382568
rs1382568
BLK
2 0.925 0.160 8 11493711 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs922483
rs922483
BLK
3 0.882 0.200 8 11494403 5 prime UTR variant C/T snv 0.31 0.010 1.000 1 2014 2014