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: rs3812316
rs3812316
14 0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02 0.800 1.000 2 2008 2019
dbSNP: rs17145750
rs17145750
9 0.925 0.120 7 73612048 intron variant C/A;T snv 0.700 1.000 2 2012 2012
dbSNP: rs1051921
rs1051921
8 0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs12531645
rs12531645
2 7 73609551 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13234131
rs13234131
1 7 73611645 intron variant A/G snv 9.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs13240994
rs13240994
2 7 73602532 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs7800944
rs7800944
5 0.882 0.160 7 73621527 intron variant T/C snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs79624003
rs79624003
3 7 73598455 intron variant A/G snv 0.10 0.700 1.000 1 2019 2019