rs45517305, TSC2

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 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
255 0.851 0.240 16 2081646 stop gained C/A;T snv 0.700 1.000 1 1998 1998
Fibrous skin tumor of tuberous sclerosis
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
2 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998