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: rs121913465
rs121913465
11 0.763 0.160 7 55181312 missense variant G/T snv 0.740 1.000 11 2004 2018
dbSNP: rs397517108
rs397517108
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.740 1.000 10 2004 2018
dbSNP: rs397517112
rs397517112
1 1.000 0.080 7 55181320 protein altering variant -/ACC delins 0.700 1.000 3 2005 2011
dbSNP: rs121913432
rs121913432
1 1.000 0.080 7 55181327 missense variant A/G snv 0.700 1.000 2 2008 2014
dbSNP: rs397517116
rs397517116
1 1.000 0.080 7 55181325 inframe insertion -/CACGTG delins 0.700 1.000 2 2005 2006
dbSNP: rs1554350366
rs1554350366
1 1.000 0.080 7 55181324 protein altering variant -/GCCACG delins 0.700 1.000 1 2005 2005
dbSNP: rs397517106
rs397517106
1 1.000 0.080 7 55181287 coding sequence variant -/TCCAGGAAGCCT delins 0.700 1.000 1 2008 2008
dbSNP: rs397517114
rs397517114
1 1.000 0.080 7 55181323 protein altering variant -/CCCACG delins 0.700 1.000 1 2005 2005
dbSNP: rs397517111
rs397517111
1 1.000 0.080 7 55181319 inframe insertion -/GGGTTG ins 0.700 0
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.980 406 2005 2020
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.100 0.938 16 2015 2020
dbSNP: rs374873413
rs374873413
1 1.000 0.080 7 55181302 missense variant G/A;C snv 4.0E-05; 8.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs1050171
rs1050171
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs754426793
rs754426793
2 0.925 0.080 7 55181395 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs778199483
rs778199483
2 1.000 0.080 7 55181313 missense variant C/G;T snv 4.8E-05 0.010 1.000 1 2014 2014