SF3B2, splicing factor 3b subunit 2, 10992

N. diseases: 15; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519959
rs1057519959
0.882 0.200 11 66063028 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016