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: rs113726158
rs113726158
DSP
2 0.925 0.120 6 7565357 splice acceptor variant A/G;T snv 0.700 1.000 3 2010 2015