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: rs121912456
rs121912456
6 0.851 0.120 21 31659806 missense variant G/C snv 0.800 1.000 23 1993 2012
dbSNP: rs121912457
rs121912457
1 1.000 0.080 21 31663854 missense variant T/C;G snv 0.800 1.000 23 1993 2012
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
dbSNP: rs11556620
rs11556620
1 1.000 0.080 21 31667278 missense variant A/G;T snv 0.800 1.000 3 2005 2012
dbSNP: rs121912445
rs121912445
4 0.882 0.080 21 31667331 missense variant A/T snv 0.720 1.000 22 1993 2017
dbSNP: rs1424014997
rs1424014997
3 0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06 0.710 1.000 21 1993 2009
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: rs1169198442
rs1169198442
1 1.000 0.080 21 31659837 missense variant A/G;T snv 0.700 1.000 20 1993 2009
dbSNP: rs1280042397
rs1280042397
1 1.000 0.080 21 31667287 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1339283341
rs1339283341
1 1.000 0.080 21 31667281 missense variant T/C snv 0.700 1.000 20 1993 2009
dbSNP: rs1378590183
rs1378590183
1 1.000 0.080 21 31667335 missense variant C/T snv 4.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1804449
rs1804449
1 1.000 0.080 21 31668533 missense variant C/A;T snv 1.2E-04 0.700 1.000 20 1993 2009
dbSNP: rs567511139
rs567511139
2 0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs121909342
rs121909342
5 0.827 0.200 2 74378104 missense variant C/G;T snv 0.700 1.000 7 2003 2016
dbSNP: rs121909344
rs121909344
2 0.925 0.080 2 74366896 missense variant G/A;C snv 1.9E-04 0.700 1.000 5 2004 2012
dbSNP: rs72466496
rs72466496
2 1.000 0.080 2 74361590 missense variant G/A snv 2.9E-03 2.8E-03 0.700 1.000 5 2004 2012
dbSNP: rs1555836950
rs1555836950
1 1.000 0.080 21 31668556 missense variant G/A snv 0.700 1.000 3 2010 2014
dbSNP: rs121909343
rs121909343
2 1.000 0.080 2 74368870 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 2 2004 2005
dbSNP: rs121909345
rs121909345
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.700 1.000 2 2004 2005
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