Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519959
rs1057519959
SF3B2
0.882 0.200 11 66063028 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016