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: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2301249
rs2301249
CSK
3 15 74800043 intron variant T/C snv 0.66 0.700 1.000 1 2018 2018