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: rs1554680190
rs1554680190
ELN
2 1.000 7 74056714 splice donor variant G/T snv 0.700 1.000 9 1994 2017