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 0.100 0.950 20 2007 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.040 0.750 4 2010 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 0.750 4 2010 2019
dbSNP: rs2214102
rs2214102
2 0.925 0.080 7 87600185 5 prime UTR variant T/A;C snv 0.95 0.020 1.000 2 2010 2011
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs142600685
rs142600685
4 0.851 0.120 7 87549940 missense variant G/A snv 3.5E-04 4.4E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs758194199
rs758194199
2 0.925 0.080 7 87549459 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018