FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs758175953
rs758175953
0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05
CUI: C2931246
Disease: Potocki-Lupski syndrome
Potocki-Lupski syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs879255678
rs879255678
0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06
CUI: C2931246
Disease: Potocki-Lupski syndrome
Potocki-Lupski syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0