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: rs367543046
rs367543046
FH
1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1997 2015
dbSNP: rs367543046
rs367543046
FH
1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.700 1.000 7 1997 2013