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: rs1057519961
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016