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: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1057519833
rs1057519833 		0.925 0.120 7 148809375 missense variant G/C snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6464926
rs6464926 		0.882 0.120 7 148821919 intron variant C/T snv 0.41
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs740949
rs740949 		1.000 0.040 7 148808972 intron variant A/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs887569
rs887569 		0.882 0.120 7 148808210 intron variant C/T snv 0.73
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12670401
rs12670401 		0.925 0.080 7 148865843 intron variant T/C snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6464926
rs6464926 		0.882 0.120 7 148821919 intron variant C/T snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs754403133
rs754403133 		0.925 0.080 7 148846598 missense variant T/C snv 2.3E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs267601395
rs267601395 		0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs887569
rs887569 		0.882 0.120 7 148808210 intron variant C/T snv 0.73
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6950683
rs6950683 		0.851 0.120 7 148884496 upstream gene variant T/C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1057519833
rs1057519833 		0.925 0.120 7 148809375 missense variant G/C snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2302427
rs2302427 		1.000 0.080 7 148828812 missense variant C/G snv 7.8E-02 6.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1057519894
rs1057519894 		0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267601395
rs267601395 		0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1554499814
rs1554499814 		1.000 7 148829806 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 1998 2013