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: rs1160351
rs1160351
2 1.000 0.040 14 47546779 intron variant A/C snv 0.31 0.710 1.000 1 2012 2012
dbSNP: rs13202860
rs13202860
2 1.000 0.040 6 86445536 intergenic variant A/T snv 6.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs13436218
rs13436218
2 1.000 0.040 5 129664693 intron variant T/G snv 1.0E-01 0.700 1.000 1 2012 2012
dbSNP: rs225848
rs225848
2 1.000 0.040 14 30125451 intron variant G/A snv 0.91 0.700 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1415125856
rs1415125856
7 0.827 0.120 11 27658550 splice region variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019