D = deletion
E = amplet
G = grosdel
I = insertion
M = mutation
N = grosins
P = complex
R = prom,
S = splice
X = indel
Primary = primary literature report
APR = additional phenotype report
FCR = functional characterization report
MCR = molecular characterization report
FAPR = report detailing both an additional phenotype and functional characterization
SAR = simple additional report
ACR = additional case report
LSDB/LSDB report = refers to an entry linked out to the corresponding locus-specific database.
DP = disease-associated polymorphisms. These are reported to be in significant association with disease (p<0.05) and are assumed to be functional (e.g. as a consequence of location, evolutionary conservation, replication studies etc), although there may be as yet no direct evidence (e.g. from an expression study) of function.
DFP = disease-associated polymorphisms with additional supporting functional evidence. These are reported to be in significant association with disease (p<0.05) and to have evidence for being of direct functional importance (e.g. as a consequence of altered expression, mRNA studies etc).
FP = in vitro/laboratory or in vivo functional polymorphisms. These are reported to affect the structure, function or expression of the gene (or gene product), but with no disease association reported as yet.
DM = disease-causing mutations, pathological mutations reported to be disease causing in the original literature report
R = retired record. A record will be retired if it is deemed to no longer be disease causing