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rs118203603

From SNPedia

ClinVar
Risk rs118203603(A;A)
Alt rs118203603(A;A)
Reference rs118203603(;)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135781006dupT
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042108.2, RCV000201178.1,