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: rs13233308
rs13233308
2 1.000 0.040 7 87615644 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 0.800 5 2006 2010
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2006 2010
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2006 2006
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs3747802
rs3747802
1 1.000 0.040 7 87713270 5 prime UTR variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4148739
rs4148739
1 1.000 0.040 7 87531733 intron variant T/C snv 0.13 0.010 1.000 1 2019 2019