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: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.100 1.000 11 1995 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: 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: 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: 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: rs16949649
rs16949649
0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2008 2018
dbSNP: rs16949649
rs16949649
0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 1.000 2 2008 2018
dbSNP: rs2302254
rs2302254
0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2010 2018
dbSNP: rs2302254
rs2302254
0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 1.000 2 2010 2018
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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
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: 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: 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: rs16949649
rs16949649
0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
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: rs16949649
rs16949649
0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
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: 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: 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: 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: 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: rs2159359
rs2159359
1.000 0.160 17 51161675 3 prime UTR variant C/A snv 0.23
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2019 2019