SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
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: rs1057519755
rs1057519755 		1.000 0.040 2 197402108 missense variant T/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519756
rs1057519756 		1.000 0.040 2 197402109 missense variant T/A;C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519961
rs1057519961 		0.851 0.240 2 197402759 missense variant C/T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961 		0.851 0.240 2 197402759 missense variant C/T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961 		0.851 0.240 2 197402759 missense variant C/T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961 		0.851 0.240 2 197402759 missense variant C/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs16865262
rs16865262 		2 197398422 intron variant T/C snv 0.20 0.18
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs374250186
rs374250186 		1.000 0.040 2 197402636 missense variant T/A;C;G snv 2.0E-05; 1.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs377023736
rs377023736 		1.000 0.040 2 197402635 missense variant C/A;G snv 2.4E-05; 4.0E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs559063155
rs559063155 		0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs754688962
rs754688962 		0.851 0.200 2 197402637 missense variant T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs754688962
rs754688962 		0.851 0.200 2 197402637 missense variant T/C;G snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs754688962
rs754688962 		0.851 0.200 2 197402637 missense variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs754688962
rs754688962 		0.851 0.200 2 197402637 missense variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs754688962
rs754688962 		0.851 0.200 2 197402637 missense variant T/C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs755415626
rs755415626 		0.925 0.200 2 197401887 missense variant C/T snv 7.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs755415626
rs755415626 		0.925 0.200 2 197401887 missense variant C/T snv 7.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976 		0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976 		0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976 		0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs788021
rs788021 		1.000 0.040 2 197428967 intron variant T/A;C snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs788021
rs788021 		1.000 0.040 2 197428967 intron variant T/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs559063155
rs559063155 		0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.030 1.000 3 2016 2017
dbSNP: rs559063155
rs559063155 		0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015