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: C2347751
Disease: Adult Grade I Meningioma
Adult 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: C0278877
Disease: Adult Meningioma
Adult Meningioma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2008 2018
dbSNP: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		0.700 0
dbSNP: rs28903098
rs28903098 		0.925 0.080 17 61859862 missense variant G/C;T snv 2.5E-04
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		0.700 0
dbSNP: rs780020495
rs780020495 		0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		0.700 0
dbSNP: rs878855151
rs878855151 		0.882 0.200 17 61684053 frameshift variant TT/- delins
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		0.700 0
dbSNP: rs4986764
rs4986764 		0.827 0.120 17 61685986 missense variant A/G snv 0.60 0.61
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2006 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: 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: 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: 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: 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
dbSNP: rs4988349
rs4988349 		0.925 0.080 17 61784279 missense variant T/A snv 3.6E-05 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs7220719
rs7220719 		0.882 0.120 17 61736921 intron variant A/G snv 0.73
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs769797684
rs769797684 		0.925 0.080 17 61744510 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1555616176
rs1555616176 		0.925 0.080 17 61849196 frameshift variant T/- del
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
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: rs4988344
rs4988344 		0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15
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: rs11079454
rs11079454 		0.882 0.080 17 61679808 3 prime UTR variant T/A;C snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2013 2016
dbSNP: rs2048718
rs2048718 		0.827 0.120 17 61863458 5 prime UTR variant C/T snv 0.42
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2016 2018
dbSNP: rs4986764
rs4986764 		0.827 0.120 17 61685986 missense variant A/G snv 0.60 0.61
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 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: rs4968451
rs4968451 		0.732 0.160 17 61849946 intron variant A/C snv 0.15
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs7213430
rs7213430 		0.851 0.080 17 61682813 3 prime UTR variant G/A snv 0.61
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs11079454
rs11079454 		0.882 0.080 17 61679808 3 prime UTR variant T/A;C snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2013 2016