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: 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: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
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: rs2048718
rs2048718 		0.827 0.120 17 61863458 5 prime UTR variant C/T snv 0.42
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: rs2048718
rs2048718 		0.827 0.120 17 61863458 5 prime UTR variant C/T snv 0.42
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
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: 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