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: rs557979163
rs557979163
DNAH1
2 0.925 3 52346726 frameshift variant -/GG delins 2.0E-04; 1.6E-05 9.1E-05 0.700 1.000 2 2001 2017
dbSNP: rs544674332
rs544674332
DNAH1
2 0.925 0.160 3 52353613 missense variant A/C snv 4.4E-06 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1297408310
rs1297408310
DNAH1
2 0.925 3 52346756 frameshift variant TAAC/- del 8.1E-06 1.4E-05 0.700 0
dbSNP: rs200416242
rs200416242
DNAH1
2 0.925 3 52394474 stop gained C/A;T snv 4.0E-06; 9.3E-05 0.700 0
dbSNP: rs759646845
rs759646845
DNAH1
2 0.925 3 52393015 frameshift variant AGAG/- delins 8.4E-05 2.4E-04 0.700 0
dbSNP: rs762545991
rs762545991
DNAH1
2 0.925 3 52375327 frameshift variant -/G delins 5.7E-05 4.2E-05 0.700 0
dbSNP: rs765417610
rs765417610
DNAH1
2 0.925 3 52381707 frameshift variant T/- del 7.0E-06 0.700 0
dbSNP: rs766323732
rs766323732
DNAH1
2 0.925 3 52363004 stop gained C/T snv 2.8E-05 0.700 0