Source: CLINVAR

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: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 10 2004 2012
dbSNP: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2017
dbSNP: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 1999 2010
dbSNP: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0