BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
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: rs11073953
rs11073953 		15 90810354 intron variant C/T snv 0.28
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2380165
rs2380165 		0.882 0.160 15 90797765 intron variant A/G snv 0.37
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2380165
rs2380165 		0.882 0.160 15 90797765 intron variant A/G snv 0.37
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: rs2380165
rs2380165 		0.882 0.160 15 90797765 intron variant A/G snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs401549
rs401549 		0.925 0.080 15 90813274 intron variant T/C snv 0.31
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: rs401549
rs401549 		0.925 0.080 15 90813274 intron variant T/C snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs401549
rs401549 		0.925 0.080 15 90813274 intron variant T/C snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs401549
rs401549 		0.925 0.080 15 90813274 intron variant T/C snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 2007 2016
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.710 1.000 10 2007 2017
dbSNP: rs587779884
rs587779884 		1.000 0.120 15 90784953 stop gained C/T snv 6.4E-05 3.5E-05
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 7 2000 2016
dbSNP: rs373525781
rs373525781 		1.000 0.120 15 90763016 stop gained C/T snv 4.4E-05 8.4E-05
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 5 2007 2016
dbSNP: rs1567040469
rs1567040469 		1.000 0.120 15 90760149 stop gained A/T snv
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 4 2007 2015
dbSNP: rs373525781
rs373525781 		1.000 0.120 15 90763016 stop gained C/T snv 4.4E-05 8.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2007 2016
dbSNP: rs1057516964
rs1057516964 		1.000 0.120 15 90760657 stop gained G/A snv 7.0E-06
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 3 2007 2018
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2012 2015
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2012 2015
dbSNP: rs1057516700
rs1057516700 		1.000 0.120 15 90785079 stop gained C/T snv
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 2 2008 2015
dbSNP: rs587783037
rs587783037 		1.000 0.120 15 90803577 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 2 2007 2013
dbSNP: rs1057517030
rs1057517030 		1.000 0.120 15 90754932 stop gained TG/- delins
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015