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: rs1060499651
rs1060499651
MYO7A
1 1.000 0.120 11 77156754 frameshift variant GT/- del 0.700 0
dbSNP: rs1060499800
rs1060499800
MYO7A
2 0.925 0.200 11 77179069 frameshift variant C/- del 0.700 0
dbSNP: rs1060499801
rs1060499801
MYO7A
2 0.925 0.200 11 77211296 stop gained C/T snv 0.700 0
dbSNP: rs1060499802
rs1060499802
MYO7A
1 1.000 0.120 11 77211311 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499803
rs1060499803
MYO7A
1 1.000 0.120 11 77194352 splice acceptor variant A/G snv 0.700 0
dbSNP: rs111033180
rs111033180
MYO7A
3 0.882 0.200 11 77172850 stop gained C/A;T snv 1.4E-05 0.700 0
dbSNP: rs1188637368
rs1188637368
MYO7A
2 0.925 0.200 11 77201488 frameshift variant C/- delins 8.0E-06 0.700 0
dbSNP: rs1192104600
rs1192104600
MYO7A
2 0.925 0.200 11 77202426 splice donor variant T/C snv 0.700 0
dbSNP: rs1253943370
rs1253943370
MYO7A
3 0.925 0.200 11 77189416 stop gained G/A snv 0.700 0
dbSNP: rs1338605788
rs1338605788
MYO7A
2 1.000 0.120 11 77211338 splice donor variant G/A snv 0.700 0
dbSNP: rs1343207038
rs1343207038
MYO7A
2 0.925 0.200 11 77172886 splice donor variant G/C snv 7.0E-06 0.700 0
dbSNP: rs1386887007
rs1386887007
MYO7A
2 1.000 0.120 11 77207407 splice region variant G/A;C snv 4.5E-06; 4.5E-06 0.700 0
dbSNP: rs1480697910
rs1480697910
MYO7A
2 0.925 0.200 11 77192233 frameshift variant CAGG/- delins 7.0E-06 0.700 0
dbSNP: rs1555051567
rs1555051567
MYO7A
2 0.925 0.200 11 77142805 splice donor variant GGATGATGAAGACAATGTGAGT/- delins 0.700 0
dbSNP: rs1555061466
rs1555061466
MYO7A
2 0.925 0.200 11 77155934 frameshift variant G/- del 0.700 0
dbSNP: rs1555072299
rs1555072299
MYO7A
2 0.925 0.200 11 77166054 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555082041
rs1555082041
MYO7A
2 0.925 0.200 11 77179039 splice acceptor variant AGGTCTAACTTTC/- delins 0.700 0
dbSNP: rs1555085978
rs1555085978
MYO7A
2 0.925 0.200 11 77183092 stop gained A/T snv 0.700 0
dbSNP: rs1555090168
rs1555090168
MYO7A
2 0.925 0.200 11 77189342 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555090885
rs1555090885
MYO7A
2 0.925 0.200 11 77190019 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555091636
rs1555091636
MYO7A
2 0.925 0.200 11 77190761 frameshift variant TGCTGACG/- del 0.700 0
dbSNP: rs1555092993
rs1555092993
MYO7A
2 0.925 0.200 11 77192144 frameshift variant G/CC delins 0.700 0
dbSNP: rs1555093028
rs1555093028
MYO7A
2 0.925 0.200 11 77192150 frameshift variant T/- del 0.700 0
dbSNP: rs1555100200
rs1555100200
MYO7A
2 0.925 0.200 11 77199541 frameshift variant C/- delins 0.700 0
dbSNP: rs1555100273
rs1555100273
MYO7A
2 0.925 0.200 11 77199608 frameshift variant C/- del 0.700 0