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: rs886037753
rs886037753
JUP
2 1.000 0.120 17 41769418 splice region variant C/A;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2010 2010