Source: BEFREE ×
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: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3760468
rs3760468 		0.882 0.120 17 51153130 upstream gene variant A/T snv 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.080 1.000 8 1995 2018
dbSNP: rs34214448
rs34214448 		0.851 0.120 17 51154651 intron variant G/T snv 0.39
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs34214448
rs34214448 		0.851 0.120 17 51154651 intron variant G/T snv 0.39
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.080 1.000 8 1995 2018
dbSNP: rs770182236
rs770182236 		0.925 0.200 17 51155707 missense variant G/A snv 6.4E-05 7.0E-06
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2159359
rs2159359 		1.000 0.160 17 51161675 3 prime UTR variant C/A snv 0.23
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3760468
rs3760468 		0.882 0.120 17 51153130 upstream gene variant A/T snv 0.39
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018