Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118203434
rs118203434
TSC1
0.925 0.120 9 132921367 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1998 2016
dbSNP: rs118203564
rs118203564
TSC1
9 132905869 frameshift variant CT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1997 2008
dbSNP: rs118203477
rs118203477
TSC1
9 132911493 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1997 2007
dbSNP: rs118203478
rs118203478
TSC1
0.882 0.200 9 132911492 frameshift variant -/A;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2013
dbSNP: rs118203682
rs118203682
TSC1
0.882 0.160 9 132902640 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1997 2006
dbSNP: rs118203728
rs118203728
TSC1
1.000 0.120 9 132897544 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2002
dbSNP: rs1064794132
rs1064794132
TSC1
1.000 0.120 9 132903649 splice donor variant A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167619
rs1114167619
TSC1
9 132900810 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167620
rs1114167620
TSC1
9 132921844 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs118203451
rs118203451
TSC1
9 132912382 frameshift variant AT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs118203727
rs118203727
TSC1
9 132897547 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554819932
rs1554819932
TSC1
9 132923466 frameshift variant TG/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0