Source: BEFREE ×
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: rs57318642
rs57318642
3 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 0.820 1.000 2 2003 2013
dbSNP: rs60310264
rs60310264
4 0.827 0.200 1 156130693 missense variant G/A snv 0.820 1.000 2 2003 2017
dbSNP: rs58596362
rs58596362
4 0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06 0.790 0.917 9 2003 2018
dbSNP: rs58912633
rs58912633
4 0.851 0.240 1 156130688 missense variant C/G;T snv 0.730 1.000 3 2003 2015
dbSNP: rs59267781
rs59267781
4 0.851 0.120 1 156138657 missense variant C/G snv 0.720 1.000 2 2004 2016
dbSNP: rs142000963
rs142000963
6 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.710 1.000 1 2008 2008
dbSNP: rs267607547
rs267607547
1 1.000 0.080 1 156137664 missense variant T/C snv 0.710 1.000 1 2006 2014
dbSNP: rs56673169
rs56673169
1 0.925 0.160 1 156137671 missense variant G/C snv 0.710 1.000 1 2011 2011
dbSNP: rs57629361
rs57629361
2 0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.710 1.000 1 2006 2006
dbSNP: rs59886214
rs59886214
1 1.000 0.080 1 156138610 splice region variant G/A snv 0.710 1.000 1 2007 2012
dbSNP: rs1190613858
rs1190613858
3 0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06 0.060 1.000 6 2011 2016
dbSNP: rs60934003
rs60934003
2 0.882 0.160 1 156137213 missense variant T/C snv 0.020 1.000 2 2004 2008
dbSNP: rs267607591
rs267607591
3 0.882 0.200 1 156135274 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs57077886
rs57077886
7 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs57520892
rs57520892
5 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs57920071
rs57920071
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs58571998
rs58571998
2 0.925 0.160 1 156137197 frameshift variant -/CTGC delins 0.010 1.000 1 2006 2006