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rs137854331

From SNPedia

ClinVar
Risk rs137854331(;)
Alt rs137854331(;)
Reference rs137854331(CAT;CAT)
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.2136373_2136375delCAT
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042585.2, RCV000201210.1,