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: rs756025720
rs756025720
1 1.000 0.080 19 7142929 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs2059806
rs2059806
7 0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 0.020 1.000 2 2015 2017
dbSNP: rs182552223
rs182552223
1 1.000 0.080 19 7141787 missense variant T/C snv 1.2E-04 1.4E-05 0.700 0
dbSNP: rs1799816
rs1799816
1 1.000 0.080 19 7125507 missense variant C/T snv 8.4E-03 5.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs1366600
rs1366600
2 1.000 0.080 19 7112870 3 prime UTR variant A/G snv 5.9E-02 0.020 1.000 2 2013 2019
dbSNP: rs121913150
rs121913150
1 1.000 0.080 19 7120707 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 5 1992 2013
dbSNP: rs1181860747
rs1181860747
10 0.776 0.240 19 7122961 missense variant C/T snv 0.070 1.000 7 2002 2019