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rs137854128

From SNPedia

ClinVar
Risk rs137854128(;)
Alt rs137854128(;)
Reference rs137854128(CAT;CAT)
Significance Probable-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.2124304_2124306delTCA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042853.3, RCV000201194.1,