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: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 1995 1995
dbSNP: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		Neoplasms 0.010 1.000 1 1996 1996
dbSNP: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2001 2004
dbSNP: rs121917887
rs121917887 		0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2003 2007
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: 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: 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: 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: 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: 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: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 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: 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: C0280255
Disease: stage, endometrial carcinoma
stage, 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: 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs34214448
rs34214448 		0.851 0.120 17 51154651 intron variant G/T snv 0.39
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 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: 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: rs16949649
rs16949649 		0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 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: 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: 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: rs2302254
rs2302254 		0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs34214448
rs34214448 		0.851 0.120 17 51154651 intron variant G/T snv 0.39
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012