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: rs6974491
rs6974491
ELMO1
6 0.807 0.120 7 37334906 intron variant G/A snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs7208487
rs7208487
FBXL20
4 0.925 0.080 17 39387196 intron variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs7665090
rs7665090
MANBA
6 0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs7665590
rs7665590
EIF4E
2 0.925 0.080 4 98875633 3 prime UTR variant T/C snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs8017161
rs8017161
EXOC3L4
2 0.925 0.080 14 103096858 intron variant G/A snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs860413
rs860413 		2 0.925 0.080 5 35942940 upstream gene variant A/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs911263
rs911263
RAD51B
4 0.851 0.200 14 68286876 intron variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs9357152
rs9357152 		5 0.827 0.240 6 32697183 regulatory region variant A/G snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs968451
rs968451 		2 0.925 0.080 22 39274846 intron variant G/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0