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: rs137852604
rs137852604
MXI1
2 0.925 0.080 10 110228276 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 1 1999 1999
dbSNP: rs1057519370
rs1057519370
NF1
7 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
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: 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: 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