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: rs775623976
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016