Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853322
PPT1
0.925 0.160 1 40078573 missense variant G/A snv 4
rs878853283
FRRS1L
1.000 9 109149675 frameshift variant -/T delins 4
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04 4
rs878853281
FRRS1L
1.000 9 109141360 stop gained C/T snv 4.0E-06 4
rs878853280
FRRS1L
1.000 9 109137529 stop gained G/A snv 4
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv 4
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs876661308
MEF2C
1.000 5 88823780 missense variant T/A snv 4
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs876657399
SCN8A
0.925 0.160 12 51768915 missense variant C/G snv 3
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins 4
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs869320713
LOC107984190 ; ZMYND11
0.851 0.120 10 248370 missense variant G/A snv 6
rs869320632
LMAN2L
0.925 0.040 2 96739883 missense variant C/T snv 4
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs869312826
GNB1
0.882 0.080 1 1787378 missense variant C/T snv 6
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs869312699
GRIK4
0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 4