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: rs387907351
rs387907351 		1.000 7 2944495 missense variant T/C snv 7.0E-06
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.810 1.000 1 2019 2019
dbSNP: rs1064795307
rs1064795307 		1.000 7 2913383 missense variant G/A snv
CUI: C4539957
Disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 		0.800 0
dbSNP: rs387907352
rs387907352 		1.000 7 2944529 missense variant C/T snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.800 0
dbSNP: rs112119265
rs112119265 		7 3022995 intron variant T/G snv 5.2E-02
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12535623
rs12535623 		1.000 0.080 7 2911778 intron variant T/C snv 0.18
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7806365
rs7806365 		7 2950375 intron variant T/C snv 0.33
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1554271741
rs1554271741 		0.925 7 2919373 stop gained G/A snv
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11 		0.700 0
dbSNP: rs1554271741
rs1554271741 		0.925 7 2919373 stop gained G/A snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.700 0
dbSNP: rs200456391
rs200456391 		1.000 7 2910168 splice region variant G/A snv 5.8E-04 7.5E-04
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11 		0.700 0
dbSNP: rs397514686
rs397514686 		1.000 7 2915243 stop gained G/A snv
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11 		0.700 0
dbSNP: rs571517554
rs571517554 		1.000 7 2944528 missense variant C/T snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.700 0
dbSNP: rs794729673
rs794729673 		1.000 7 2947649 missense variant C/T snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.700 0
dbSNP: rs41324349
rs41324349 		0.925 0.120 7 2907529 intron variant G/A;C;T snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs41324349
rs41324349 		0.925 0.120 7 2907529 intron variant G/A;C;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs958331
rs958331 		1.000 0.080 7 2921775 intron variant T/C snv 0.22
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018