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: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
9 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs1555471098
rs1555471098
CREBBP
6 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
dbSNP: rs1555932766
rs1555932766
USP9X
9 0.882 0.080 X 41210540 stop gained C/T snv 0.700 0
dbSNP: rs397514452
rs397514452
ADK
5 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0