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: rs1463326176
rs1463326176
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.060 1.000 6 2005 2019
dbSNP: rs28931605
rs28931605
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.060 1.000 6 2005 2019
dbSNP: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.040 1.000 4 2011 2019
dbSNP: rs121909596
rs121909596
3 0.925 0.040 2 208124188 missense variant C/T snv 0.030 1.000 3 2005 2018
dbSNP: rs398122937
rs398122937
3 0.882 0.040 13 20142862 missense variant C/T snv 0.030 1.000 3 2012 2018
dbSNP: rs104893736
rs104893736
5 0.827 0.040 3 186539566 missense variant C/A snv 0.020 1.000 2 2009 2016
dbSNP: rs3825942
rs3825942
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.020 1.000 2 2008 2015
dbSNP: rs398122947
rs398122947
3 0.882 0.040 21 43170619 missense variant G/A snv 0.020 1.000 2 2006 2019
dbSNP: rs7543472
rs7543472
1 1.000 0.040 1 16113897 regulatory region variant C/A;G;T snv 0.020 1.000 2 2012 2016
dbSNP: rs104893685
rs104893685
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs1050829
rs1050829
5 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1114167307
rs1114167307
4 0.851 0.200 13 20143233 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1135401778
rs1135401778
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs1163215981
rs1163215981
1 1.000 0.040 19 544073 start lost T/C snv 2.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs118203965
rs118203965
2 0.925 0.040 20 33850969 missense variant A/T snv 0.010 1.000 1 2020 2020
dbSNP: rs118203966
rs118203966
3 0.882 0.040 20 33851064 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1215029143
rs1215029143
2 1.000 0.040 X 154558608 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1215603718
rs1215603718
3 0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs121909595
rs121909595
3 0.925 0.040 2 208124321 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121909598
rs121909598
3 0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121912973
rs121912973
3 0.882 0.040 21 43172105 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121917867
rs121917867
MIP
2 0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs121917869
rs121917869
MIP
4 0.851 0.080 12 56453715 missense variant T/C;G snv 0.010 1.000 1 2000 2000
dbSNP: rs1227057051
rs1227057051
2 1.000 0.040 21 43172266 missense variant G/A snv 8.2E-06 0.010 1.000 1 2017 2017