Source: ALL
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: rs121918304
rs121918304
4 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1386710060
rs1386710060
1 11 72584619 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs587777057
rs587777057
8 0.827 0.040 16 56336744 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2009 2009
dbSNP: rs796065306
rs796065306
4 1.000 0.080 3 123319754 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs864309484
rs864309484
4 1.000 0.080 3 123291354 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs398122394
rs398122394
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs878853280
rs878853280
4 1.000 9 109137529 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281
4 1.000 9 109141360 stop gained C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282
4 1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs878853283
rs878853283
4 1.000 9 109149675 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1064794533
rs1064794533
4 0.882 0.080 16 56336846 missense variant G/A snv 0.700 0
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs147484110
rs147484110
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 0
dbSNP: rs1554504684
rs1554504684
3 1.000 8 23007711 missense variant G/A snv 0.700 0
dbSNP: rs1555731819
rs1555731819
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs1562114190
rs1562114190
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1569525894
rs1569525894
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs374052333
rs374052333
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs796052505
rs796052505
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0