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: rs10089517
rs10089517 		2 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs11073060
rs11073060 		2 1.000 0.040 15 34697650 intergenic variant C/A snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs12193446
rs12193446
LAMA2 ; LOC102723409
3 0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 0.700 1.000 1 2014 2014
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs17648524
rs17648524
RBFOX1
4 0.882 0.040 16 7409682 intron variant G/C snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs2352179
rs2352179
GRID1
1 1.000 0.040 10 86030323 intron variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2018 2018
dbSNP: rs1085307137
rs1085307137
PUF60
5 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1554643168
rs1554643168
PUF60
7 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1565706229
rs1565706229
EED ; MIR6755
18 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
dbSNP: rs587784105
rs587784105
NSD1
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs730882203
rs730882203
DMBX1
6 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
dbSNP: rs774277300
rs774277300
MRE11
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs12536657
rs12536657
HGF
2 0.925 0.040 7 81720892 intron variant A/G snv 0.84 0.85 0.020 1.000 2 2010 2019
dbSNP: rs1357179
rs1357179 		1 1.000 0.040 15 34698424 intergenic variant T/G snv 0.30 0.010 1.000 1 2013 2013