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: rs727503003
rs727503003
DSP
2 1.000 0.080 6 7581012 frameshift variant -/A delins 0.700 1.000 3 2010 2011