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: rs1064795945
rs1064795945
ASPM
5 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009
dbSNP: rs1064793829
rs1064793829
GATAD2B
5 0.882 0.160 1 153816571 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 1 2006 2006
dbSNP: rs587779766
rs587779766
AHDC1
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
AHDC1
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
AHDC1
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs869312821
rs869312821
GNB1
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
GNB1
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825
GNB1
11 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312826
rs869312826
GNB1
6 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057519392
rs1057519392
POGZ
2 1.000 0.160 1 151412348 missense variant A/G snv 0.700 0
dbSNP: rs1135401733
rs1135401733
HNRNPU
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 0
dbSNP: rs1135401770
rs1135401770
ZBTB18
2 1.000 1 244053916 stop gained C/G;T snv 0.700 0
dbSNP: rs1553196096
rs1553196096
CDC42
5 1 22086463 missense variant G/A snv 0.700 0
dbSNP: rs1553196101
rs1553196101
CDC42
8 0.925 0.080 1 22086507 missense variant T/C snv 0.700 0
dbSNP: rs1553196134
rs1553196134
CDC42
6 0.925 0.080 1 22086856 missense variant C/T snv 0.700 0
dbSNP: rs1553283831
rs1553283831
HNRNPU
1 1 244863711 frameshift variant -/G delins 0.700 0
dbSNP: rs199422151
rs199422151
ASPM
4 0.882 0.120 1 197125190 stop gained G/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs199422152
rs199422152
ASPM
4 0.882 0.120 1 197125161 stop gained C/T snv 0.700 0
dbSNP: rs199422173
rs199422173
ASPM
7 0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 0.700 0
dbSNP: rs202060209
rs202060209
SLC2A1
3 0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05 0.700 0
dbSNP: rs561330579
rs561330579
CELSR2
2 1.000 1 109258951 missense variant C/G;T snv 7.3E-05 0.700 0
dbSNP: rs571640983
rs571640983
MFSD2A
4 0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0