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: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1555928716
rs1555928716
RPS6KA3
7 0.925 X 20167669 stop gained G/A snv 0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
37 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
dbSNP: rs782609482
rs782609482
SURF1
4 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1131692154
rs1131692154
SYNGAP1
6 0.925 0.160 6 33432700 stop gained C/T snv 0.700 0
dbSNP: rs1554121671
rs1554121671
SYNGAP1
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs386834055
rs386834055
VPS13B
9 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0