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: rs1172486173
rs1172486173
QARS1 ; MIR6890
11 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
9 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs139751598
rs139751598
PYCR1
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 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: 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: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555247805
rs1555247805
MED13L
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555483699
rs1555483699
GRIN2A
10 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
dbSNP: rs1555570093
rs1555570093
MPDU1
12 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
dbSNP: rs1555570110
rs1555570110
MPDU1
9 0.827 0.240 17 7586766 missense variant A/C 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: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1556912828
rs1556912828
HUWE1
6 0.925 0.280 X 53536209 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: 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
dbSNP: rs1557006873
rs1557006873
HUWE1
4 0.925 0.280 X 53615786 missense variant A/C snv 0.700 0
dbSNP: rs1557006903
rs1557006903
HUWE1
5 0.851 0.280 X 53615815 missense variant C/T snv 0.700 0