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.
Brooke-Spiegler syndrome
CUI: C1857941
Disease: Brooke-Spiegler syndrome
8 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.720 1.000 2 2009 2014
Ancell-Spiegler cylindromas
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
19 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.700 0
Familial multiple trichoepitheliomata
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
32 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.700 0
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Brenner Tumor
CUI: C0006160
Disease: Brenner Tumor
1 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Eccrine dermal cylindroma
CUI: C1305968
Disease: Eccrine dermal cylindroma
3 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Surface epithelial-stromal tumor
CUI: C4551593
Disease: Surface epithelial-stromal tumor
1 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014