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: rs10781500
rs10781500
1 1.000 0.040 9 136374886 upstream gene variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10870077
rs10870077
5 0.827 0.120 9 136369439 intron variant C/G snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs141992399
rs141992399
5 0.827 0.120 9 136365140 splice donor variant C/G;T snv 3.3E-03; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs4077515
rs4077515
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.020 1.000 2 2010 2016