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: rs1427331568
rs1427331568
3 0.882 0.120 5 143314010 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs143125661
rs143125661
3 0.882 0.120 6 18149120 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs147390019
rs147390019
2 0.925 0.120 13 48045720 missense variant G/A snv 2.6E-03 2.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs1482545954
rs1482545954
3 0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1573613
rs1573613
3 0.882 0.120 12 11894684 3 prime UTR variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs17007695
rs17007695
4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs17069665
rs17069665
4 0.882 0.120 6 108620265 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs17213693
rs17213693
2 0.925 0.120 6 32813344 intron variant G/C snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs186364861
rs186364861
4 0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs1966862
rs1966862
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs200378616
rs200378616
3 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2070120
rs2070120
1 1.000 0.120 6 32813137 3 prime UTR variant G/A snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs2274407
rs2274407
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs2413739
rs2413739
6 0.827 0.120 22 43001030 intron variant C/T snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs2742038
rs2742038
3 0.882 0.120 10 101137330 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs35134728
rs35134728
3 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 0.010 1.000 1 2017 2017
dbSNP: rs368005287
rs368005287
3 0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3731246
rs3731246
3 0.882 0.120 9 21971990 intron variant C/G snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
3 0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs3758149
rs3758149
GGH
3 0.882 0.120 8 63039169 upstream gene variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3794012
rs3794012
3 0.882 0.120 11 8248697 intron variant T/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs3794845
rs3794845
MBP
3 0.882 0.120 18 77002561 intron variant G/C snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs387906517
rs387906517
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs408626
rs408626
2 0.925 0.120 5 80655314 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs41320251
rs41320251
3 0.882 0.120 20 3213196 missense variant C/A;G snv 0.010 1.000 1 2009 2009