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: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1567941252
rs1567941252
PCGF2
10 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
dbSNP: rs1569309484
rs1569309484
RLIM
13 0.807 0.200 X 74591586 missense variant A/G snv 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0