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rs137854193

From SNPedia

ClinVar
Risk rs137854193(;)
Alt rs137854193(;)
Reference rs137854193(CAAA;CAAA)
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.2135002_2135005delACAA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042563.3, RCV000201030.2,