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rs118203597

From SNPedia

ClinVar
Risk rs118203597(;)
Alt rs118203597(;)
Reference rs118203597(CA;CA)
Significance Pathogenic
Disease Tuberous sclerosis 1 Tuberous sclerosis syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis 1 Tuberous sclerosis syndrome
Reversed 1
HGVS NC_000009.11:g.135781060_135781061delTG
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005406.2, RCV000042102.3,