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
CUI: C0041341
Disease: Tuberous Sclerosis
246 0.821 0.250 9 132906053 stop gained G/A snp 0.710 1.000 1 2016 2016
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
78 0.821 0.250 9 132906053 stop gained G/A snp 0.700 9 1997 2017
Lymphangioleiomyomatosis
CUI: C0751674
Disease: Lymphangioleiomyomatosis
10 0.821 0.250 9 132906053 stop gained G/A snp 0.700 1 2015 2015
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
12 0.821 0.250 9 132906053 stop gained G/A snp 0.700 1 2015 2015
Malignant neoplasm of urinary bladder
157 0.821 0.250 9 132906053 stop gained G/A snp 0.700 0