"Sequence Variation" is sometimes designated as "polymorphism",
indicating that it is "non-disease causing".
According to the general definition in human genetics,
a "polymorphism" has to reach an allelic frequency of 1%. In addition,
when a sequence variation is found in one single individual,
it is not possible to determine if it is "non-disease causing"
Detailed View of promoter
Get the summary of a mutation by putting your mouse over that mutation. Click to view the details of that mutation.