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 0.030 1.000 3 2008 2017
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17300539
rs17300539
11 0.752 0.320 3 186841671 upstream gene variant G/A snv 5.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs17366743
rs17366743
7 0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs199646033
rs199646033
3 0.925 0.120 3 186854219 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs62625753
rs62625753
3 0.925 0.120 3 186854237 missense variant G/A snv 3.0E-03 2.9E-03 0.010 1.000 1 2003 2003
dbSNP: rs822396
rs822396
16 0.732 0.400 3 186849088 intron variant G/A snv 0.81 0.010 1.000 1 2013 2013