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: rs11598702
rs11598702
1 10 103138228 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs104894419
rs104894419
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs759838407
rs759838407
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs17824620
rs17824620
2 12 112663189 intron variant C/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs10759637
rs10759637
2 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs7729269
rs7729269
MCC
3 0.925 0.040 5 113384697 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs1537514
rs1537514
4 0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs724159947
rs724159947
6 0.851 0.120 12 11869601 missense variant C/T snv 0.710 1.000 2 2015 2015
dbSNP: rs786205155
rs786205155
4 0.882 0.120 12 11884481 missense variant T/C snv 0.710 1.000 1 2015 2015
dbSNP: rs724159946
rs724159946
3 1.000 12 11884541 missense variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs786205154
rs786205154
3 1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 0.700 0
dbSNP: rs724159945
rs724159945
3 1.000 12 11885968 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10510050
rs10510050
1 10 118867050 intron variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1523130
rs1523130
1 3 119780660 5 prime UTR variant T/C snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs3814055
rs3814055
4 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1523127
rs1523127
3 0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1556620697
rs1556620697
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs2071346
rs2071346
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1064797085
rs1064797085
2 1.000 11 128810620 frameshift variant ATTA/- delins 0.700 0
dbSNP: rs5030764
rs5030764
GP9
5 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs1297235855
rs1297235855
GP9
1 3 129062206 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs527297896
rs527297896
2 1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05 0.010 1.000 1 2019 2019