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: rs1567629968
rs1567629968
3 0.882 0.160 16 67648973 missense variant C/A snv 0.700 0
dbSNP: rs199840952
rs199840952
7 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs869025224
rs869025224
7 0.827 0.240 2 97734709 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs587777641
rs587777641
3 0.925 0.040 8 143215294 missense variant A/C snv 0.700 1.000 4 2009 2014
dbSNP: rs587777642
rs587777642
3 0.925 0.040 8 143215376 frameshift variant ACCCTGGCAAAGCTCCC/- delins 0.700 1.000 4 2009 2014
dbSNP: rs149491038
rs149491038
3 0.882 0.040 11 117995684 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs121918338
rs121918338
7 0.807 0.160 9 136370362 stop gained G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1454037218
rs1454037218
2 0.925 0.120 9 136371975 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs28362459
rs28362459
3 0.925 0.040 19 5844781 missense variant A/C;G;T snv 0.18; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs3745635
rs3745635
3 0.882 0.040 19 5844332 missense variant C/T snv 8.5E-02 0.11 0.010 1.000 1 2016 2016
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs748770316
rs748770316
1 1.000 0.040 4 2744488 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17388568
rs17388568
6 0.827 0.280 4 122408207 intron variant G/A snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2019 2019