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: rs121908965
rs121908965
MYO15A ; LOC105371566
1 1.000 0.120 17 18145935 missense variant A/G;T snv 1.2E-05 0.800 1.000 3 1998 2014
dbSNP: rs121908966
rs121908966
MYO15A ; LOC105371566
1 1.000 0.120 17 18145929 missense variant A/T snv 0.800 1.000 3 1998 2014
dbSNP: rs121908969
rs121908969
MYO15A ; LOC105371566 ; LOC105371567
1 1.000 0.120 17 18154190 missense variant G/T snv 4.0E-06 0.800 1.000 3 1998 2014
dbSNP: rs769260536
rs769260536
MYO15A ; LOC105371566
1 1.000 0.120 17 18119934 frameshift variant C/- delins 9.6E-05 1.0E-04 0.700 1.000 3 2013 2014
dbSNP: rs117071200
rs117071200
MYO15A ; LOC105371566
1 1.000 0.120 17 18143728 missense variant G/A;T snv 1.6E-04 0.700 1.000 2 2013 2015
dbSNP: rs184435771
rs184435771
MYO15A ; LOC105371566 ; LOC105371567
1 1.000 0.120 17 18154714 missense variant G/A snv 1.9E-04 1.1E-04 0.700 1.000 2 2011 2013
dbSNP: rs749136456
rs749136456
MYO15A ; LOC105371566
1 1.000 0.120 17 18131523 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.700 1.000 2 2010 2016
dbSNP: rs1567620939
rs1567620939
MYO15A ; LOC105371566
1 1.000 0.120 17 18119970 frameshift variant -/GCCATCT delins 0.700 1.000 1 2017 2017
dbSNP: rs375290498
rs375290498
MYO15A ; LOC105371566
1 1.000 0.120 17 18143580 stop gained G/A;T snv 2.0E-03 0.700 1.000 1 2012 2012
dbSNP: rs377385081
rs377385081
MYO15A ; LOC105371566
1 1.000 0.120 17 18145938 missense variant G/A snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs773648511
rs773648511
MYO15A ; LOC105371566
1 1.000 0.120 17 18119063 missense variant C/T snv 4.1E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs794729637
rs794729637
MYO15A ; LOC105371566
1 1.000 0.120 17 18122105 frameshift variant -/G delins 0.700 1.000 1 2007 2007
dbSNP: rs1057519601
rs1057519601
MYO15A
2 0.925 0.120 17 18171764 frameshift variant G/CCAGGCCCGTGCAGCTC delins 0.700 0
dbSNP: rs1057519603
rs1057519603
MYO15A ; LOC105371566
2 0.925 0.120 17 18126856 missense variant T/C snv 0.700 0
dbSNP: rs1057519604
rs1057519604
MYO15A ; LOC105371566
2 0.925 0.120 17 18148937 frameshift variant G/- delins 0.700 0
dbSNP: rs1057519606
rs1057519606
MYO15A
2 0.925 0.120 17 18159349 splice donor variant T/C snv 0.700 0
dbSNP: rs1057519607
rs1057519607
MYO15A
2 0.925 0.120 17 18178843 frameshift variant -/C delins 0.700 0
dbSNP: rs1060499798
rs1060499798
MYO15A ; LOC105371566
1 1.000 0.120 17 18132486 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1209665716
rs1209665716
MYO15A ; LOC105371566
2 1.000 0.120 17 18135798 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121908967
rs121908967
MYO15A ; LOC105371566
1 1.000 0.120 17 18151859 stop gained A/T snv 0.700 0
dbSNP: rs121908968
rs121908968
MYO15A ; LOC105371566
1 1.000 0.120 17 18124558 stop gained C/T snv 0.700 0
dbSNP: rs121908971
rs121908971
MYO15A ; LOC105371566
1 1.000 0.120 17 18122113 stop gained G/A;T snv 0.700 0
dbSNP: rs121908972
rs121908972
MYO15A ; LOC105371566
1 1.000 0.120 17 18141104 missense variant G/T snv 0.700 0
dbSNP: rs1221876133
rs1221876133
MYO15A ; LOC105371566 ; LOC105371567
1 1.000 0.120 17 18153812 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs1229200252
rs1229200252
MYO15A ; LOC105371566
2 1.000 0.120 17 18119405 missense variant C/A;T snv 0.700 0