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: rs6473799
rs6473799
2 8 53240563 intron variant A/G snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs7016778
rs7016778
3 8 53237545 intron variant A/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs7824175
rs7824175
1 8 53231614 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs751416416
rs751416416
5 0.882 0.120 8 53250920 missense variant C/A;T snv 8.3E-06; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs1051660
rs1051660
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 < 0.001 1 2017 2017