TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
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: rs1800472
rs1800472
0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2018 2018