rs1060501263, CDKN2A

N. diseases: 2
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
50 1.000 0.120 9 21971001 frameshift variant C/- delins 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.120 9 21971001 frameshift variant C/- delins 0.700 0