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: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2155209
rs2155209 		0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs786202801
rs786202801 		1.000 0.200 11 94429909 splice donor variant A/T snv 1.2E-05 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs786202801
rs786202801 		1.000 0.200 11 94429909 splice donor variant A/T snv 1.2E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs13447720
rs13447720 		0.925 0.040 11 94432160 intron variant T/C snv 0.17
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13447720
rs13447720 		0.925 0.040 11 94432160 intron variant T/C snv 0.17
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs601341
rs601341 		0.925 0.080 11 94434611 intron variant G/A snv 0.40
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs601341
rs601341 		0.925 0.080 11 94434611 intron variant G/A snv 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs587781442
rs587781442 		0.882 0.200 11 94435846 frameshift variant -/GAAGTGGTAGGAAAAATGTC delins 7.0E-05
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs587781442
rs587781442 		0.882 0.200 11 94435846 frameshift variant -/GAAGTGGTAGGAAAAATGTC delins 7.0E-05
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587781442
rs587781442 		0.882 0.200 11 94435846 frameshift variant -/GAAGTGGTAGGAAAAATGTC delins 7.0E-05
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587781442
rs587781442 		0.882 0.200 11 94435846 frameshift variant -/GAAGTGGTAGGAAAAATGTC delins 7.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1295485913
rs1295485913 		1.000 0.200 11 94435900 splice acceptor variant C/A snv
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1295485913
rs1295485913 		1.000 0.200 11 94435900 splice acceptor variant C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587781822
rs587781822 		1.000 0.200 11 94435901 splice acceptor variant T/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2015 2016
dbSNP: rs587781822
rs587781822 		1.000 0.200 11 94435901 splice acceptor variant T/C snv 4.0E-06
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555002387
rs1555002387 		11 94437172 splice donor variant TTAC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0