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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2008 2015
dbSNP: rs111945767
rs111945767
1 1.000 0.120 6 32549268 downstream gene variant G/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs11229
rs11229
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2012 2012
dbSNP: rs1235162
rs1235162
6 0.827 0.280 6 29569447 intron variant A/G snv 6.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs1265159
rs1265159
3 0.882 0.240 6 31172270 intron variant G/A snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs12653117
rs12653117
1 1.000 0.120 5 9386473 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs1270942
rs1270942
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs1422673
rs1422673
2 0.925 0.160 5 151059427 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs150881176
rs150881176
1 1.000 0.120 6 29979963 downstream gene variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1634718
rs1634718
3 0.925 0.160 6 31005088 regulatory region variant A/G snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1794282
rs1794282
6 0.807 0.320 6 32698749 intergenic variant C/T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs1980493
rs1980493
10 0.776 0.400 6 32395438 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs204990
rs204990
4 0.851 0.280 6 32193653 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2071591
rs2071591
2 0.925 0.160 6 31548022 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2187668
rs2187668
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.700 1.000 1 2012 2012
dbSNP: rs2233287
rs2233287
2 0.925 0.160 5 151060536 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs2233956
rs2233956
5 0.827 0.320 6 31113428 upstream gene variant T/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs231770
rs231770
1 1.000 0.120 2 203864430 upstream gene variant C/T snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs2516400
rs2516400
8 0.827 0.320 6 31513328 upstream gene variant G/A snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2517598
rs2517598
4 0.851 0.280 6 30112497 synonymous variant G/A snv 0.14 0.13 0.700 1.000 1 2012 2012
dbSNP: rs2523987
rs2523987
5 0.827 0.280 6 30112216 intron variant A/C snv 9.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs2523989
rs2523989
5 0.827 0.280 6 30110498 missense variant C/T snv 0.12 0.12 0.700 1.000 1 2012 2012
dbSNP: rs2524005
rs2524005
5 0.882 0.160 6 29931900 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs2596560
rs2596560
4 0.851 0.280 6 31387541 intergenic variant T/C snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs2844657
rs2844657
3 0.882 0.240 6 30861745 upstream gene variant A/G snv 0.17 0.700 1.000 1 2012 2012