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rs118203478

From SNPedia

ClinVar
Risk rs118203478(T;T)
Alt rs118203478(T;T)
Reference rs118203478(;)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135786880dupA
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042390.2, RCV000189866.1, RCV000201139.1,