Gene: EMD ×
Source: CLINVAR ×
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: rs1557182317
rs1557182317
EMD
3 0.925 0.160 X 154379790 frameshift variant -/T delins 0.700 0