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rs397515009

From SNPedia

ClinVar
Risk rs397515009(AGCAAGTCCAGCTCCTC;AGCAAGTCCAGCTCCTC)
Alt rs397515009(AGCAAGTCCAGCTCCTC;AGCAAGTCCAGCTCCTC)
Reference Rs397515009(-;-)
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.2134370_2134386dup17
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000055224.1, RCV000201100.1,