Source: CURATED ×
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: rs1553630457
rs1553630457
TGFBR2
8 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs864309488
rs864309488
GMNN
14 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518992
rs1057518992
NFIA
2 1.000 0.200 1 61359232 frameshift variant G/- delins 0.700 0
dbSNP: rs1064796460
rs1064796460
TUBA1A
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs1135401746
rs1135401746
GNB1
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs1553155986
rs1553155986
SLC2A1
6 0.827 0.280 1 42929008 missense variant C/T snv 0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
6 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
dbSNP: rs1554034812
rs1554034812
NIPBL
3 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0
dbSNP: rs1554985320
rs1554985320
PAX6
3 0.925 0.240 11 31801619 stop gained C/T snv 0.700 0
dbSNP: rs1558027212
rs1558027212
TMCO1
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs1558939623
rs1558939623
CHN1
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs180177135
rs180177135
PALB2
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs28935469
rs28935469
FLNA
4 0.882 0.280 X 154367844 missense variant G/A snv 0.700 0
dbSNP: rs28942094
rs28942094
IRF6
4 0.851 0.400 1 209801398 missense variant G/A snv 0.700 0
dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
3 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
25 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs587784105
rs587784105
NSD1
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
10 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0