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: rs768608755
rs768608755
PAX3
1 1.000 0.080 2 222294286 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs869312823
rs869312823
GNB1
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
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: rs1555736565
rs1555736565
CACNA1A
3 0.925 0.080 19 13230191 missense variant C/A;T snv 0.700 0
dbSNP: rs730882203
rs730882203
DMBX1
6 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
dbSNP: rs730882213
rs730882213
SCAMP4 ; ADAT3
4 0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs148000791
rs148000791
AHI1
2 0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
5 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057518926
rs1057518926
FOXP1
5 0.925 0.120 3 70977675 missense variant G/C snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1555483699
rs1555483699
GRIN2A
10 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
dbSNP: rs794727792
rs794727792
STXBP1
8 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
11 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs148677674
rs148677674
LZTR1
3 0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04 0.700 0
dbSNP: rs1555247805
rs1555247805
MED13L
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs185476065
rs185476065
QARS1 ; MIR6890
11 0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.700 0
dbSNP: rs913477149
rs913477149
RFT1
13 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
dbSNP: rs869312822
rs869312822
GNB1
8 0.827 0.200 1 1806514 missense variant A/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: rs869312873
rs869312873
NALCN
5 0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057519436
rs1057519436
DHX30
7 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
9 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0