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: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.050 1.000 5 2013 2015
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.030 1.000 3 2010 2015
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.020 1.000 2 2014 2015
dbSNP: rs1063537
rs1063537
6 0.807 0.320 3 186856286 3 prime UTR variant C/T snv 9.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs17300539
rs17300539
11 0.752 0.320 3 186841671 upstream gene variant G/A snv 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs182052
rs182052
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs2082940
rs2082940
10 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2241767
rs2241767
10 0.763 0.440 3 186853407 intron variant A/G snv 0.10 0.010 1.000 1 2014 2014