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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.070 0.714 7 2002 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 0.333 3 2007 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2014 2019
dbSNP: rs2032583
rs2032583
1 1.000 0.040 7 87531245 intron variant A/G snv 0.12 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2235015
rs2235015
1 1.000 0.040 7 87570248 intron variant C/A;T snv 0.18 0.23 0.010 1.000 1 2019 2019
dbSNP: rs2235040
rs2235040
1 1.000 0.040 7 87536434 intron variant C/A;G;T snv 0.12 0.13 0.010 1.000 1 2019 2019