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: 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: 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: C1512260
Disease: Grade I Meningioma
Grade I 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: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4988344
rs4988344 		0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15
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: rs4988344
rs4988344 		0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15
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: 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: rs4988344
rs4988344 		0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs6504074
rs6504074 		0.882 0.120 17 61822429 intron variant G/A;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs6504074
rs6504074 		0.882 0.120 17 61822429 intron variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs6504074
rs6504074 		0.882 0.120 17 61822429 intron variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs6504074
rs6504074 		0.882 0.120 17 61822429 intron variant G/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6504074
rs6504074 		0.882 0.120 17 61822429 intron variant G/A;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6504074
rs6504074 		0.882 0.120 17 61822429 intron variant G/A;T snv
CUI: C0699889
Disease: Malignant Female Reproductive System Neoplasm
Malignant Female Reproductive System Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
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: rs7220719
rs7220719 		0.882 0.120 17 61736921 intron variant A/G snv 0.73
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7220719
rs7220719 		0.882 0.120 17 61736921 intron variant A/G snv 0.73
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: rs8076727
rs8076727 		0.925 0.080 17 61837320 intron variant G/A snv 0.19
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs8076727
rs8076727 		0.925 0.080 17 61837320 intron variant G/A snv 0.19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		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: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 18 2005 2018
dbSNP: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 12 2005 2016
dbSNP: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2005 2015
dbSNP: rs574552037
rs574552037 		1.000 0.120 17 61716043 stop gained G/A;C snv 3.3E-04; 2.4E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2005 2017
dbSNP: rs587781321
rs587781321 		0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2014 2016