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.
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
90 0.821 0.250 10 87957915 stop gained C/T snp 0.700 10 1997 2018
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
226 0.821 0.250 10 87957915 stop gained C/T snp 0.700 10 2004 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.821 0.250 10 87957915 stop gained C/T snp 0.700 9 1997 2017
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
362 0.821 0.250 10 87957915 stop gained C/T snp 0.700 7 1998 2011
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
303 0.821 0.250 10 87957915 stop gained C/T snp 0.700 4 1999 2010
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
180 0.821 0.250 10 87957915 stop gained C/T snp 0.700 1 2012 2012
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
17 0.821 0.250 10 87957915 stop gained C/T snp 0.700 0
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
46 0.821 0.250 10 87957915 stop gained C/T snp 0.010 1.000 1 2016 2016