rs1301051974, TSC1

N. diseases: 3
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.
Rhabdomyoma
CUI: C0035411
Disease: Rhabdomyoma
1 0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011