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: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.700 1.000 2 2011 2015
dbSNP: rs174577
rs174577
13 1.000 0.080 11 61837342 intron variant C/A snv 0.38 0.700 1.000 1 2014 2014
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs4921915
rs4921915
2 8 18414956 intergenic variant G/A snv 0.71 0.700 1.000 1 2014 2014
dbSNP: rs6486121
rs6486121
3 11 13334223 intron variant C/T snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs744653
rs744653
4 2 189514024 regulatory region variant C/T snv 0.84 0.700 1.000 1 2014 2014
dbSNP: rs8177179
rs8177179
4 0.925 0.080 3 133744613 intron variant G/A snv 0.58 0.700 1.000 1 2014 2014
dbSNP: rs8177240
rs8177240
TF
5 3 133758857 intron variant T/C;G snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs9990333
rs9990333
4 3 196100334 intergenic variant C/T snv 0.42 0.700 1.000 1 2014 2014