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rs118203707

From SNPedia

ClinVar
Risk rs118203707(;)
Alt rs118203707(;)
Reference rs118203707(AACA;AACA)
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.135776215_135776218delTGTT
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042222.3, RCV000201118.1,