TPM1, tropomyosin 1, 7168

N. diseases: 117; N. variants: 62
Disease: Familial (FPAH) ×
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: rs199476301
rs199476301 		0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2016 2016