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: rs121913321
rs121913321
STK11
1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 5 1998 2010
dbSNP: rs121913321
rs121913321
STK11
1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2005 2005