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: rs12857479
rs12857479
TEX26
1 1.000 0.040 13 30956872 splice acceptor variant G/A snv 0.35 0.28 0.010 1.000 1 2016 2016