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: rs397516979
rs397516979
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 2 2005 2006
dbSNP: rs397516979
rs397516979
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2014 2014