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: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2008 2018
dbSNP: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2008 2018
dbSNP: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2008 2018
dbSNP: rs11871753
rs11871753 		0.851 0.120 17 61779284 intron variant A/G snv 0.75
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11871753
rs11871753 		0.851 0.120 17 61779284 intron variant A/G snv 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11871753
rs11871753 		0.851 0.120 17 61779284 intron variant A/G snv 0.75
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11871753
rs11871753 		0.851 0.120 17 61779284 intron variant A/G snv 0.75
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs12937080
rs12937080 		1.000 0.120 17 61852376 intron variant A/G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs16945628
rs16945628 		0.851 0.120 17 61789868 intron variant T/C snv 0.60
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs16945628
rs16945628 		0.851 0.120 17 61789868 intron variant T/C snv 0.60
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs16945628
rs16945628 		0.851 0.120 17 61789868 intron variant T/C snv 0.60
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs16945628
rs16945628 		0.851 0.120 17 61789868 intron variant T/C snv 0.60
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs16945692
rs16945692 		0.882 0.080 17 61862883 intron variant A/G snv 0.17
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs16945692
rs16945692 		0.882 0.080 17 61862883 intron variant A/G snv 0.17
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs16945692
rs16945692 		0.882 0.080 17 61862883 intron variant A/G snv 0.17
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs2191249
rs2191249 		0.882 0.120 17 61758503 intron variant T/G snv 0.79
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2191249
rs2191249 		0.882 0.120 17 61758503 intron variant T/G snv 0.79
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2191249
rs2191249 		0.882 0.120 17 61758503 intron variant T/G snv 0.79
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs34289250
rs34289250 		0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs34289250
rs34289250 		0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C0334611
Disease: Transitional Meningioma
Transitional Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
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: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C2347760
Disease: Childhood Grade I Meningioma
Childhood Grade I Meningioma 		0.010 1.000 1 2018 2018
dbSNP: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008