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: rs1004212
rs1004212
2 14 78714883 synonymous variant C/G;T snv 8.0E-06; 0.15 0.010 1.000 1 2011 2011
dbSNP: rs11624704
rs11624704
3 1.000 0.080 14 78319734 intron variant A/C snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs199953844
rs199953844
2 6 154039650 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2014 2014
dbSNP: rs73317305
rs73317305
1 8 118486753 intron variant T/C snv 3.6E-02 0.010 1.000 1 2017 2017