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: rs490460
rs490460
1 1.000 0.040 11 117293049 splice region variant C/A;T snv 0.74 0.010 1.000 1 2017 2017