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
dbSNP: rs1057519959
rs1057519959
SF3B2
0.882 0.200 11 66063028 missense variant A/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519959
rs1057519959
SF3B2
0.882 0.200 11 66063028 missense variant A/C snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs1057519959
rs1057519959
SF3B2
0.882 0.200 11 66063028 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016