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: rs111033214
rs111033214
MYO7A
3 0.882 0.200 11 77189348 missense variant G/A snv 2.0E-05 4.2E-05 0.800 1.000 24 1995 2016
dbSNP: rs28934610
rs28934610
MYO7A
3 0.882 0.200 11 77156904 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 24 1995 2016
dbSNP: rs397516321
rs397516321
MYO7A
2 0.925 0.200 11 77205598 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 21 1995 2017
dbSNP: rs1555067667
rs1555067667
MYO7A
3 0.882 0.200 11 77160272 missense variant C/A snv 0.800 1.000 20 1995 2015
dbSNP: rs782166819
rs782166819
MYO7A
3 0.882 0.200 11 77156990 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.800 1.000 20 1995 2015
dbSNP: rs782252317
rs782252317
MYO7A
2 0.925 0.200 11 77142763 missense variant G/A;T snv 8.2E-06; 4.1E-06 0.800 1.000 20 1995 2016
dbSNP: rs111033181
rs111033181
MYO7A
2 0.925 0.200 11 77156022 missense variant T/A;C snv 2.8E-05 0.800 1.000 19 1995 2016
dbSNP: rs111033206
rs111033206
MYO7A
2 0.925 0.200 11 77162854 missense variant G/A snv 1.2E-05 0.800 1.000 19 1995 2015
dbSNP: rs199606180
rs199606180
MYO7A
3 0.882 0.200 11 77206120 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 17 1995 2015
dbSNP: rs111033178
rs111033178
MYO7A
6 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.800 1.000 16 1995 2015
dbSNP: rs111033215
rs111033215
MYO7A
2 0.925 0.200 11 77206108 missense variant G/A snv 3.3E-05 4.2E-05 0.800 1.000 15 1995 2015
dbSNP: rs111033283
rs111033283
MYO7A
3 0.882 0.200 11 77156909 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 15 1995 2015
dbSNP: rs368657015
rs368657015
MYO7A
3 0.882 0.200 11 77205554 missense variant T/C snv 2.4E-05 7.0E-06 0.800 1.000 15 1995 2015
dbSNP: rs1472566324
rs1472566324
MYO7A
2 0.925 0.200 11 77156676 missense variant G/A snv 7.0E-06 0.800 1.000 6 2006 2016
dbSNP: rs876657416
rs876657416
MYO7A
1 1.000 0.200 11 77174772 missense variant T/C snv 7.0E-06 0.800 1.000 2 2011 2014
dbSNP: rs111033260
rs111033260
PCDH15
7 0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 0.710 1.000 2 2003 2004
dbSNP: rs111033403
rs111033403
MYO7A
1 1.000 0.200 11 77156018 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 17 1995 2015
dbSNP: rs139889944
rs139889944
MYO7A
1 1.000 0.200 11 77199771 missense variant G/A snv 3.7E-03 1.2E-03 0.700 1.000 17 1995 2015
dbSNP: rs375050157
rs375050157
MYO7A
1 1.000 0.200 11 77182575 missense variant T/A;C;G snv 1.2E-05; 4.0E-06 0.700 1.000 17 1995 2015
dbSNP: rs397516332
rs397516332
MYO7A
2 0.925 0.200 11 77214608 missense variant G/A;T snv 5.2E-06; 1.0E-05 0.700 1.000 17 1995 2015
dbSNP: rs763469001
rs763469001
MYO7A
1 1.000 0.200 11 77192155 missense variant G/C;T snv 4.0E-06 0.700 1.000 17 1995 2015
dbSNP: rs782174733
rs782174733
MYO7A
1 1.000 0.200 11 77177627 missense variant C/T snv 2.1E-05 7.0E-06 0.700 1.000 17 1995 2015
dbSNP: rs111033174
rs111033174
MYO7A
2 0.925 0.200 11 77156683 missense variant C/T snv 2.8E-05; 2.4E-05 1.4E-05 0.700 1.000 15 1995 2015
dbSNP: rs111033233
rs111033233
MYO7A
1 1.000 0.200 11 77181589 missense variant G/A;T snv 4.0E-06; 8.1E-06 0.700 1.000 15 1995 2015
dbSNP: rs111033286
rs111033286
MYO7A
1 1.000 0.200 11 77162146 missense variant C/T snv 0.700 1.000 15 1995 2015