Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994152
rs113994152
TSEN54
11 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.020 1.000 2 2010 2014