Source: ALL
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: rs1553403917
rs1553403917
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs45487298
rs45487298
3 0.882 0.120 1 209706871 intron variant -/A delins 0.010 1.000 1 2019 2019
dbSNP: rs549625604
rs549625604
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
dbSNP: rs34872250
rs34872250
SST
1 1.000 0.080 3 187670560 upstream gene variant -/AG ins 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2016 2019
dbSNP: rs146052672
rs146052672
5 0.851 0.160 6 34242693 intron variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs140236920
rs140236920
2 0.925 0.120 5 18186317 intergenic variant -/TAAAT delins 0.700 1.000 1 2015 2015
dbSNP: rs397509430
rs397509430
HBB
3 0.882 0.200 11 5227101 5 prime UTR variant A/- del 0.010 1.000 1 2015 2015
dbSNP: rs121913564
rs121913564
3 0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 0.800 1.000 5 2003 2015
dbSNP: rs10504473
rs10504473
1 1.000 0.080 8 70348097 intron variant A/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs10946398
rs10946398
7 0.827 0.160 6 20660803 intron variant A/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs11624704
rs11624704
3 1.000 0.080 14 78319734 intron variant A/C snv 0.13 0.800 1.000 1 2011 2011
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs13426118
rs13426118
1 1.000 0.080 2 202390762 intron variant A/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs1541276
rs1541276
2 0.925 0.120 18 13825728 splice region variant A/C snv 0.17 0.19 0.010 1.000 1 2008 2008
dbSNP: rs164147
rs164147
3 0.882 0.080 1 162368607 3 prime UTR variant A/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs16964465
rs16964465
1 1.000 0.080 15 51680150 upstream gene variant A/C snv 5.4E-02 0.010 1.000 1 2007 2007
dbSNP: rs201739205
rs201739205
5 0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs2030323
rs2030323
6 0.925 0.080 11 27706992 intron variant A/C snv 0.83 0.800 1.000 1 2013 2013
dbSNP: rs2844479
rs2844479
5 0.925 0.200 6 31605179 intergenic variant A/C snv 0.34 0.010 < 0.001 1 2013 2013
dbSNP: rs34603401
rs34603401
4 0.882 0.280 1 9245386 missense variant A/C snv 0.12 0.10 0.010 1.000 1 2012 2012
dbSNP: rs35036378
rs35036378
5 0.851 0.200 14 64294403 5 prime UTR variant A/C snv 7.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs7503807
rs7503807
1 1.000 0.080 17 80617311 intron variant A/C snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs7713645
rs7713645
4 0.851 0.200 5 68231498 intron variant A/C snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.040 1.000 4 2008 2019