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: rs119483085
rs119483085
5 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.730 1.000 3 2007 2017
dbSNP: rs11575976
rs11575976
1 1.000 0.120 8 133254596 splice acceptor variant C/G;T snv 4.0E-06 0.700 0