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: rs1554776342
rs1554776342
SET
2 1.000 9 128691222 frameshift variant ACAG/- delins 0.700 1.000 3 2001 2016