Source: CURATED ×
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: rs80358233
rs80358233
2 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 2 1997 1998