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: rs1131690917
rs1131690917
1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
0.700 1.000 3 1999 2013
dbSNP: rs1131690917
rs1131690917
1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2001 2001