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: 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: 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: rs1555736565
rs1555736565
CACNA1A
3 0.925 0.080 19 13230191 missense variant C/A;T snv 0.700 0
dbSNP: rs1555247805
rs1555247805
MED13L
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs1557006873
rs1557006873
HUWE1
4 0.925 0.280 X 53615786 missense variant A/C 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: 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: 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: rs1556913180
rs1556913180
HUWE1
5 0.882 0.280 X 53536488 missense variant T/C snv 0.700 0
dbSNP: rs1557006903
rs1557006903
HUWE1
5 0.851 0.280 X 53615815 missense variant C/T snv 0.700 0
dbSNP: rs1553196134
rs1553196134
CDC42
6 0.925 0.080 1 22086856 missense variant C/T snv 0.700 0
dbSNP: rs1556912828
rs1556912828
HUWE1
6 0.925 0.280 X 53536209 missense variant G/C snv 0.700 0
dbSNP: rs587777449
rs587777449
IFIH1
6 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs730882198
rs730882198
SPART
6 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs730882203
rs730882203
DMBX1
6 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs782393002
rs782393002
HUWE1
6 0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 0.700 0
dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
6 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
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: rs1556913258
rs1556913258
HUWE1
7 0.851 0.280 X 53536580 missense variant G/C snv 0.700 0
dbSNP: rs1556978515
rs1556978515
HUWE1
7 0.851 0.280 X 53591113 missense variant T/C snv 0.700 0