rs121913315, STK11

N. diseases: 5
Source: CLINVAR ×
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.
Peutz-Jeghers Syndrome
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
74 0.882 0.160 19 1220488 missense variant G/A;T snv 0.800 1.000 14 1998 2014
melanoma
CUI: C0025202
Disease: melanoma
129 0.882 0.160 19 1220488 missense variant G/A;T snv 0.800 1.000 1 1999 1999
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.160 19 1220488 missense variant G/A;T snv 0.700 1.000 7 1999 2013
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.882 0.160 19 1220488 missense variant G/A;T snv 0.700 1.000 1 2007 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.882 0.160 19 1220488 missense variant G/A;T snv 0.700 1.000 1 2014 2014