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: rs121912559
rs121912559
MYO6
1 1.000 0.120 6 75840678 missense variant A/T snv 3.2E-04 8.4E-05 0.700 1.000 1 2003 2003
dbSNP: rs121912558
rs121912558
MYO6
1 1.000 0.120 6 75914119 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1562201376
rs1562201376
MYO6
1 1.000 0.120 6 75817582 frameshift variant -/T delins 0.700 0
dbSNP: rs727503326
rs727503326
MYO6
2 0.925 0.120 6 75844906 stop gained C/T snv 1.6E-05 0.700 0