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: rs1557182654
rs1557182654
EMD
1 1.000 0.120 X 154381013 frameshift variant CA/- del 0.700 1.000 2 1996 2005