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: rs1019238
rs1019238
2 0.925 0.080 17 56201354 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs12491921
rs12491921
2 0.925 0.080 3 106570103 intergenic variant T/C snv 0.44 0.700 1.000 1 2011 2011
dbSNP: rs1431318
rs1431318
2 0.925 0.080 17 56115162 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs806380
rs806380
2 0.925 0.120 6 88154934 intron variant A/G snv 0.26 0.030 1.000 3 2006 2009
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.020 1.000 2 2009 2016
dbSNP: rs2609997
rs2609997
3 0.882 0.120 8 56447926 intron variant T/C snv 0.34 0.020 1.000 2 2012 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs17664708
rs17664708
2 1.000 0.080 8 32579499 intron variant C/T snv 1.0E-01 0.010 1.000 1 2012 2012
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2576573
rs2576573
2 0.925 0.120 8 56445416 3 prime UTR variant G/A snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs604300
rs604300
3 1.000 0.080 3 127724009 intron variant A/G snv 0.91 0.010 1.000 1 2015 2015
dbSNP: rs7162140
rs7162140
1 1.000 0.080 15 34018399 5 prime UTR variant C/G;T snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 1.000 1 2009 2009