TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
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: rs4884357
rs4884357
0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2018 2018
dbSNP: rs80356740
rs80356740
1.000 1 11022556 missense variant A/G snv 1.7E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2008 2008