Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854106
rs137854106
TSC2
1 1.000 0.120 16 2079357 frameshift variant A/- delins 0.700 1.000 2 2001 2001