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: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.060 1.000 6 2010 2017
dbSNP: rs17300539
rs17300539
11 0.752 0.320 3 186841671 upstream gene variant G/A snv 5.3E-02 0.020 0.500 2 2009 2013
dbSNP: rs822396
rs822396
16 0.732 0.400 3 186849088 intron variant G/A snv 0.81 0.010 1.000 1 2018 2018
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2011 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.040 1.000 4 2011 2018
dbSNP: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.030 1.000 3 2002 2004
dbSNP: rs1259867035
rs1259867035
1 1.000 0.040 3 186854387 stop gained C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1391272583
rs1391272583
2 0.925 0.080 3 186853177 missense variant T/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs746639990
rs746639990
1 1.000 0.040 3 186854598 missense variant A/G snv 2.1E-04 7.0E-06 0.010 1.000 1 2018 2018