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: rs1541276
rs1541276
2 0.925 0.120 18 13825728 splice region variant A/C snv 0.17 0.19 0.010 1.000 1 2008 2008