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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 0.667 3 2013 2014
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2013 2014
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1224520731
rs1224520731
QPCT
2 0.925 0.080 2 37359620 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1297630698
rs1297630698
GCA
2 0.925 0.080 2 162359540 frameshift variant C/- del 0.010 1.000 1 1999 1999
dbSNP: rs137852604
rs137852604
MXI1
2 0.925 0.080 10 110228276 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs139819006
rs139819006
APP
2 0.925 0.080 21 26022001 missense variant G/A snv 1.4E-04 6.3E-05 0.010 1.000 1 1999 1999
dbSNP: rs1406402854
rs1406402854
GGT1
2 0.925 0.080 22 24614850 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs149146781
rs149146781
AAAS
2 0.925 0.080 12 53314757 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1991401
rs1991401
DDX5 ; CEP95
4 0.882 0.120 17 64506317 5 prime UTR variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs7005286
rs7005286
AGO2
1 1.000 0.080 8 140584361 intron variant T/C snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs755258895
rs755258895
GCA
2 0.925 0.080 2 162347711 missense variant T/C snv 8.1E-06 0.010 1.000 1 1999 1999
dbSNP: rs759049323
rs759049323
MXI1
2 0.925 0.080 10 110284872 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs766007044
rs766007044
ITGA2B
2 0.925 0.080 17 44385562 missense variant T/C snv 4.9E-06 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs768784941
rs768784941
AAAS
2 0.925 0.080 12 53314352 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs769267394
rs769267394
TTC3
2 0.925 0.080 21 37153248 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs771317418
rs771317418
APP
2 0.925 0.080 21 26051117 missense variant A/G snv 2.0E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs7813
rs7813
GEMIN4
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs868408509
rs868408509
LAMA2
6 0.827 0.160 6 128883315 missense variant C/G;T snv 4.6E-06 0.010 1.000 1 2015 2015