TBC1D1, TBC1 domain family member 1, 23216

N. diseases: 25; N. variants: 7
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: rs35859249
rs35859249
0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02
CUI: C1281440
Disease: Familial obesity
Familial obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2008 2018