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rs137854290

From SNPedia

ClinVar
Risk rs137854290(;)
Alt rs137854290(;)
Reference rs137854290(AAG;AAG)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2136795_2136797delAAG
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043159.3, RCV000201053.1,