BCL10, BCL10 immune signaling adaptor, 8915

N. diseases: 205; N. variants: 14
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: rs121918314
rs121918314 		1.000 1 85270792 stop gained G/A;C snv
CUI: C3276200
Disease: MALE GERM CELL TUMOR, SOMATIC
MALE GERM CELL TUMOR, SOMATIC 		0.700 0
dbSNP: rs370432633
rs370432633 		1.000 0.120 1 85267841 missense variant G/A snv 1.6E-05
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906350
rs387906350 		0.882 0.120 1 85267830 frameshift variant A/-;AA delins
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906350
rs387906350 		0.882 0.120 1 85267830 frameshift variant A/-;AA delins
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		Neoplasms 0.700 0
dbSNP: rs387906350
rs387906350 		0.882 0.120 1 85267830 frameshift variant A/-;AA delins
CUI: C3276200
Disease: MALE GERM CELL TUMOR, SOMATIC
MALE GERM CELL TUMOR, SOMATIC 		0.700 0
dbSNP: rs387906351
rs387906351 		0.882 0.160 1 85270828 frameshift variant T/-;TT delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs387906351
rs387906351 		0.882 0.160 1 85270828 frameshift variant T/-;TT delins
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		Neoplasms 0.700 0
dbSNP: rs387906351
rs387906351 		0.882 0.160 1 85270828 frameshift variant T/-;TT delins
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776630
rs587776630 		1.000 0.120 1 85270800 frameshift variant -/T delins
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776631
rs587776631 		1.000 0.120 1 85270619 frameshift variant T/- delins
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776632
rs587776632 		0.925 0.120 1 85267901 frameshift variant A/-;AAA delins
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776632
rs587776632 		0.925 0.120 1 85267901 frameshift variant A/-;AAA delins
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776633
rs587776633 		1.000 0.120 1 85270732 frameshift variant -/T delins
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776634
rs587776634 		1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776635
rs587776635 		1.000 0.120 1 85267919 frameshift variant T/- delins
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776636
rs587776636 		1.000 0.120 1 85267930 frameshift variant -/A delins
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776637
rs587776637 		1.000 0.120 1 85267692 inframe deletion TCT/- delins
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs606231305
rs606231305 		1.000 1 85276295 splice donor variant C/T snv
CUI: C4015195
Disease: IMMUNODEFICIENCY 37
IMMUNODEFICIENCY 37 		0.700 0
dbSNP: rs3768235
rs3768235 		0.925 0.080 1 85267691 missense variant C/T snv 8.0E-06; 6.5E-02 4.5E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2001 2001
dbSNP: rs3768235
rs3768235 		0.925 0.080 1 85267691 missense variant C/T snv 8.0E-06; 6.5E-02 4.5E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2001 2001