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: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs1062630
rs1062630
1 6 31170330 synonymous variant G/A snv 0.18 0.22 0.700 1.000 1 2017 2017
dbSNP: rs10885
rs10885
1 6 31636814 missense variant C/T snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10947261
rs10947261
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10947262
rs10947262
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs1161098
rs1161098
1 12 67453680 intron variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs116671518
rs116671518
1 4 107189709 intron variant T/C snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs12154141
rs12154141
1 6 62460168 downstream gene variant A/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs12759054
rs12759054
3 1.000 0.040 1 233984064 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs138117677
rs138117677
1 16 3348899 TF binding site variant GGGACT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs200655768
rs200655768
1 2 178711222 synonymous variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs200688486
rs200688486
1 6 32621223 regulatory region variant -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs204992
rs204992
1 6 32189131 intron variant G/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs204994
rs204994
4 0.925 0.120 6 32187221 non coding transcript exon variant C/T snv 0.18 0.21 0.700 1.000 1 2013 2013
dbSNP: rs204995
rs204995
2 1.000 0.120 6 32186508 non coding transcript exon variant A/G snv 0.21 0.27 0.700 1.000 1 2013 2013
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs2153486
rs2153486
1 14 87737048 intron variant C/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs2213585
rs2213585
2 1.000 0.040 6 32445373 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2213586
rs2213586
2 1.000 0.040 6 32445317 downstream gene variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2227139
rs2227139
4 0.925 0.160 6 32445682 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2239802
rs2239802
4 0.882 0.200 6 32444069 intron variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2239803
rs2239803
4 0.882 0.240 6 32444056 intron variant C/A;T snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2239804
rs2239804
5 0.851 0.240 6 32443746 intron variant T/A;C snv 0.51 0.700 1.000 1 2013 2013