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: rs750609759
rs750609759
TFR2
1 1.000 0.080 7 100627822 splice acceptor variant T/C snv 1.6E-05 7.0E-06 0.700 1.000 2 2013 2015