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rs137854218

From SNPedia

ClinVar
Risk rs137854218(;)
Alt rs137854218(;)
Reference rs137854218(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Reversed 0
HGVS NC_000016.9:g.2138305_2138322del18
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013211.25, RCV000043162.3, RCV000055053.1,