Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 21 1998 2014
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 1 1999 1999
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1999 2013
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2007 2007