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: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs863223408
rs863223408
ACVRL1
4 0.882 0.160 12 51920832 missense variant G/A snv 0.700 0
dbSNP: rs867593888
rs867593888
MYH9
11 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0