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: rs727504443
rs727504443
DSP
5 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 6 1999 2014