Gene: MYO7A ×
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: rs1338605788
rs1338605788
MYO7A
2 1.000 0.120 11 77211338 splice donor variant G/A snv 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: rs1555076948
rs1555076948
MYO7A
3 0.925 0.200 11 77172747 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs1565402473
rs1565402473
MYO7A
2 1.000 0.120 11 77179098 frameshift variant G/- delins 0.700 0
dbSNP: rs1565455391
rs1565455391
MYO7A
2 1.000 0.120 11 77197596 stop gained C/A snv 0.700 0
dbSNP: rs750358148
rs750358148
MYO7A
3 0.925 0.200 11 77190117 missense variant C/A;G;T snv 1.1E-05; 1.1E-05 0.700 0
dbSNP: rs781989117
rs781989117
MYO7A
2 1.000 0.120 11 77142710 missense variant G/A;T snv 1.7E-05 0.700 0
dbSNP: rs782255281
rs782255281
MYO7A
2 1.000 0.120 11 77175392 stop gained C/A snv 1.2E-05 0.700 0
dbSNP: rs121965084
rs121965084
MYO7A
2 1.000 0.120 11 77162149 missense variant A/G;T snv 1.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs781893704
rs781893704
MYO7A
1 11 77156737 missense variant C/T snv 2.0E-04 4.2E-05 0.010 1.000 1 2018 2018