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: rs121912454
rs121912454
1 1.000 0.080 21 31668493 stop gained T/A;C snv 0.700 0
dbSNP: rs121912458
rs121912458
1 1.000 0.080 21 31667260 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1235629842
rs1235629842
1 1.000 0.080 21 31667373 missense variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1301635320
rs1301635320
1 1.000 0.080 21 31667364 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs76731700
rs76731700
1 1.000 0.080 21 31667319 stop gained G/A;T snv 0.700 0
dbSNP: rs986277034
rs986277034
1 1.000 0.080 21 31663881 missense variant C/G snv 0.700 0
dbSNP: rs1315541036
rs1315541036
2 0.925 0.080 21 31667273 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.710 1.000 1 2001 2001
dbSNP: rs1476760624
rs1476760624
1 1.000 0.080 21 31668559 missense variant T/G snv 4.0E-06 0.710 1.000 1 1997 1997
dbSNP: rs1002442
rs1002442
4 0.851 0.080 10 60043304 non coding transcript exon variant T/G snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs10029851
rs10029851
4 0.851 0.080 4 108706869 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs10145110
rs10145110
4 0.851 0.080 14 101008533 intron variant C/T snv 9.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs11061269
rs11061269
4 0.851 0.080 12 130971904 intron variant G/A snv 7.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs115134572
rs115134572
4 0.851 0.080 3 143629403 intron variant A/G snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs11590421
rs11590421
4 0.851 0.080 1 38528443 intergenic variant G/A snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs11744876
rs11744876
4 0.851 0.080 5 11084600 intron variant G/A snv 7.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs11987758
rs11987758
4 0.851 0.080 8 2180583 regulatory region variant G/A snv 0.12 0.700 1.000 1 2014 2014
dbSNP: rs12608932
rs12608932
5 0.827 0.080 19 17641880 intron variant A/C snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs12891047
rs12891047
4 0.851 0.080 14 67776358 intron variant C/A snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs13100616
rs13100616
4 0.851 0.080 3 178681763 intron variant A/G snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs139550538
rs139550538
IDE
5 0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs1400816
rs1400816
4 0.851 0.080 2 171824168 intron variant A/C snv 0.81 0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443
4 0.851 0.080 2 212050001 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1465567777
rs1465567777
1 1.000 0.080 1 156051319 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1559473
rs1559473
4 0.851 0.080 2 222016799 intergenic variant T/G snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs1605070
rs1605070
4 0.851 0.080 3 51882999 intergenic variant C/A snv 0.60 0.700 1.000 1 2014 2014