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: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.900 0.933 15 2005 2019
dbSNP: rs3817963
rs3817963
8 0.776 0.360 6 32400310 intron variant T/C snv 0.25 0.710 1.000 2 2012 2013
dbSNP: rs9268402
rs9268402
5 0.827 0.200 6 32373576 intron variant G/A snv 0.45 0.700 1.000 2 2008 2012
dbSNP: rs111877852
rs111877852
1 1.000 0.040 6 32378632 intron variant AGATAGAT/-;AGAT;AGATAGATAGAT;AGATAGATAGATAGAT;AGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGATAGAT delins 3.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs1265757
rs1265757
1 1.000 0.040 6 32334605 intron variant C/T snv 6.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs1980494
rs1980494
1 1.000 0.040 6 32379239 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2076520
rs2076520
1 1.000 0.040 6 32403492 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2076522
rs2076522
2 0.925 0.160 6 32403402 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2076524
rs2076524
2 0.925 0.160 6 32402907 intron variant A/G snv 0.26 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2076525
rs2076525
2 0.925 0.160 6 32402839 intron variant T/C snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2281276
rs2281276
1 1.000 0.040 6 32372329 intron variant A/G snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs2294878
rs2294878
1 1.000 0.040 6 32400018 intron variant G/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs2294880
rs2294880
1 1.000 0.040 6 32399945 intron variant A/G snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs2395153
rs2395153
2 0.925 0.160 6 32377818 intron variant C/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs2395155
rs2395155
1 1.000 0.040 6 32380120 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2395157
rs2395157
5 0.827 0.240 6 32380368 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs28361060
rs28361060
1 1.000 0.040 6 32336071 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs28366178
rs28366178
1 1.000 0.040 6 32308498 intron variant T/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs3117116
rs3117116
2 1.000 0.040 6 32399240 intron variant G/A snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs3763307
rs3763307
3 0.882 0.200 6 32406845 non coding transcript exon variant A/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs3793126
rs3793126
3 0.882 0.240 6 32403842 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs41264786
rs41264786
1 1.000 0.040 6 32253868 upstream gene variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs4373382
rs4373382
1 1.000 0.040 6 32383091 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4713515
rs4713515
1 1.000 0.040 6 32273098 intron variant A/G snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs565188555
rs565188555
1 1.000 0.040 6 32378631 intron variant -/GTAGATAG delins 0.700 1.000 1 2012 2012