TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567489890
rs1567489890
1.000 0.120 16 2077476 non coding transcript exon variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.700 0
dbSNP: rs773920155
rs773920155
0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.700 0
dbSNP: rs181088346
rs181088346
0.925 0.080 16 2069770 intron variant G/A snv 2.3E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs45507199
rs45507199
0.925 0.120 16 2088294 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005