rs118203682, TSC1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
128 0.882 0.160 9 132902640 stop gained G/A snv 0.700 1.000 9 1997 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.160 9 132902640 stop gained G/A snv 0.700 1.000 2 1997 2006
Cardiac rhabdomyoma
CUI: C1332852
Disease: Cardiac rhabdomyoma
1 0.882 0.160 9 132902640 stop gained G/A snv 0.700 0
Hamartoma
CUI: C0018552
Disease: Hamartoma
8 0.882 0.160 9 132902640 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 9 132902640 stop gained G/A snv 0.700 0