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: rs11607883
rs11607883
2 11 45818158 intron variant G/A snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs11672660
rs11672660
5 19 45676926 intron variant C/T snv 0.18 0.17 0.700 1.000 1 2012 2012
dbSNP: rs11715915
rs11715915
AMT
2 3 49417897 synonymous variant C/A;T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs11782386
rs11782386
2 8 9344277 intron variant C/T snv 9.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs117911989
rs117911989
2 7 131285034 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs118084662
rs118084662
1 17 21169976 intron variant A/G snv 3.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs118137427
rs118137427
2 10 111217250 intergenic variant A/G snv 3.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs11891554
rs11891554
2 2 27390750 intron variant G/A;T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs12055786
rs12055786
3 6 153109990 intron variant C/T snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs12243326
rs12243326
5 0.925 0.160 10 113029056 intron variant T/C snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12280680
rs12280680
1 11 46279171 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs12285364
rs12285364
2 1.000 0.080 11 121522517 intron variant C/T snv 6.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs12385797
rs12385797
1 11 106465562 upstream gene variant C/A snv 6.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs12440695
rs12440695
3 15 62142957 regulatory region variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs1280
rs1280
2 3 170995501 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs12805422
rs12805422
2 1.000 0.080 11 45818338 intron variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs13023194
rs13023194
4 0.925 0.120 2 27744393 intergenic variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs13100723
rs13100723
2 3 56764467 intron variant C/T snv 7.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs13179048
rs13179048
2 5 96207022 intron variant C/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs13404446
rs13404446
4 0.925 0.120 2 27296386 intron variant G/A snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs13427272
rs13427272
1 2 80058810 intron variant G/A snv 5.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs13431652
rs13431652
5 0.925 0.080 2 168896905 intron variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs1395
rs1395
4 0.882 0.200 2 27201768 missense variant G/A snv 0.62 0.55 0.700 1.000 1 2015 2015
dbSNP: rs1401419
rs1401419
3 1.000 0.040 11 45858188 intron variant T/C snv 0.39 0.700 1.000 1 2012 2012