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: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.020 0.500 2 2017 2018
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2017 2018
dbSNP: rs11539196
rs11539196
1 1.000 0.080 20 56370541 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2064863
rs2064863
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs6024836
rs6024836
7 0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42 0.010 1.000 1 2018 2018