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: rs34101942
rs34101942
1 1.000 0.160 22 39167907 intergenic variant -/A delins 0.68 0.700 1.000 1 2015 2015
dbSNP: rs577040336
rs577040336
1 1.000 0.160 3 41856512 intron variant -/AATATATATATA delins 0.700 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2017
dbSNP: rs201957963
rs201957963
1 1.000 0.160 3 41765956 intron variant -/TA delins 0.700 1.000 1 2011 2011
dbSNP: rs587780174
rs587780174
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 0
dbSNP: rs1128226
rs1128226
1 1.000 0.160 7 21902051 3 prime UTR variant A/C snv 0.34 0.700 1.000 2 2011 2013
dbSNP: rs11129935
rs11129935
1 1.000 0.160 3 41943711 intron variant A/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs113683976
rs113683976
1 1.000 0.160 3 41809193 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs11709840
rs11709840
1 1.000 0.160 3 169852453 intron variant A/C snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs12185934
rs12185934
1 1.000 0.160 3 41795066 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs12330747
rs12330747
1 1.000 0.160 3 41949337 intron variant A/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs1716642
rs1716642
1 1.000 0.160 3 41924373 intron variant A/C snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs1717017
rs1717017
1 1.000 0.160 3 41874124 intron variant A/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs17215988
rs17215988
1 1.000 0.160 3 41809828 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs17217536
rs17217536
1 1.000 0.160 3 41881808 intron variant A/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs4240807
rs4240807
4 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs4299460
rs4299460
1 1.000 0.160 3 41910953 intron variant A/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs4547673
rs4547673
1 1.000 0.160 3 41910811 intron variant A/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs55744136
rs55744136
1 1.000 0.160 3 41770801 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs56201224
rs56201224
1 1.000 0.160 3 41962935 upstream gene variant A/C snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs57525756
rs57525756
1 1.000 0.160 3 41802099 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs6457327
rs6457327
7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.010 1.000 1 2017 2017
dbSNP: rs6809328
rs6809328
1 1.000 0.160 3 41709513 intron variant A/C snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs73071203
rs73071203
1 1.000 0.160 3 41935972 intron variant A/C snv 0.13 0.15 0.700 1.000 1 2011 2011