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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 0.810 42 1996 2019
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.080 1.000 8 1998 2017
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.030 0.667 3 2014 2019
dbSNP: rs6305
rs6305
3 0.882 0.040 13 46892487 synonymous variant G/A snv 1.8E-02 1.7E-02 0.020 0.500 2 2007 2019
dbSNP: rs1805055
rs1805055
3 0.882 0.120 13 46895833 missense variant G/C;T snv 2.0E-05; 1.8E-02 0.010 1.000 1 1997 1997
dbSNP: rs7322347
rs7322347
1 1.000 0.040 13 46835968 intron variant T/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs75634836
rs75634836
11 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2005 2005