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 0.710 1.000 1 2011 2011
dbSNP: rs886037740
rs886037740
TSEN54
1 1.000 0.080 17 75517657 splice donor variant T/C snv 0.700 0