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: rs10757279
rs10757279
3 0.925 0.040 9 22124631 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs11057830
rs11057830
5 0.851 0.040 12 124822507 intron variant G/A snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs1129293
rs1129293
3 0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26 0.010 1.000 1 2017 2017
dbSNP: rs113681054
rs113681054
1 1.000 0.040 12 21250045 intergenic variant T/C snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs11638352
rs11638352
2 0.925 0.040 15 44000939 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs117038461
rs117038461
1 1.000 0.040 7 100243731 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs11915606
rs11915606
BTD
2 0.925 0.040 3 15633655 intron variant T/G snv 3.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs12290663
rs12290663
2 0.925 0.040 11 26141193 intergenic variant G/A snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs1235324522
rs1235324522
F2R
1 1.000 0.040 5 76732662 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs12740374
rs12740374
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs138741635
rs138741635
2 0.925 0.040 3 60942161 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs140104968
rs140104968
1 1.000 0.040 7 99946004 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs140607780
rs140607780
1 1.000 0.040 7 100505900 upstream gene variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs144610116
rs144610116
2 0.925 0.040 4 38941227 intron variant T/C snv 8.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs144972973
rs144972973
2 0.925 0.040 15 44272494 intergenic variant A/G snv 1.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs145044782
rs145044782
2 0.925 0.040 7 7995866 intron variant G/A snv 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs147204125
rs147204125
2 0.925 0.040 14 73609035 intron variant A/G snv 9.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs147233090
rs147233090
6 0.925 0.040 15 43735849 intron variant C/T snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs147642358
rs147642358
1 1.000 0.040 7 99335136 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs148121703
rs148121703
2 0.925 0.040 4 47371654 intron variant TGT/- delins 2.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs149232047
rs149232047
2 0.925 0.040 6 126276990 intergenic variant A/G snv 1.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs151269874
rs151269874
2 0.925 0.040 16 75549741 intron variant C/T snv 6.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs16985615
rs16985615
2 1.000 0.040 20 23661790 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs16999497
rs16999497
2 0.925 0.040 X 129601222 regulatory region variant T/C snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17398575
rs17398575
3 0.882 0.040 7 106769006 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017