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: 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: rs2532105
rs2532105 		0.925 0.080 15 90812255 non coding transcript exon variant G/A snv 0.11
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: rs2532105
rs2532105 		0.925 0.080 15 90812255 non coding transcript exon variant G/A snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2532105
rs2532105 		0.925 0.080 15 90812255 non coding transcript exon variant G/A snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2532105
rs2532105 		0.925 0.080 15 90812255 non coding transcript exon variant G/A snv 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs367543012
rs367543012 		1.000 0.120 15 90769437 frameshift variant -/T 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 2007 2007
dbSNP: rs367543014
rs367543014 		1.000 0.120 15 90790747 frameshift variant C/- delins 1.4E-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 1 2007 2007
dbSNP: rs367543014
rs367543014 		1.000 0.120 15 90790747 frameshift variant C/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2007 2007
dbSNP: rs367543024
rs367543024 		1.000 0.120 15 90769537 frameshift variant AG/- del 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 1 2007 2007
dbSNP: rs367543024
rs367543024 		1.000 0.120 15 90769537 frameshift variant AG/- del 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 2007 2007
dbSNP: rs367543026
rs367543026 		1.000 0.120 15 90749845 frameshift variant TT/-;T 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 2008 2008
dbSNP: rs367543035
rs367543035 		1.000 0.120 15 90749825 stop gained CAA/- del
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 2007 2007
dbSNP: rs367543036
rs367543036 		1.000 0.120 15 90763158 splice donor variant G/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 1 2007 2007
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: rs786204524
rs786204524 		1.000 0.120 15 90754839 frameshift variant AAAGA/- 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 2007 2007
dbSNP: rs1057516253
rs1057516253 		1.000 0.120 15 90798284 frameshift variant AT/- del
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1057516297
rs1057516297 		1.000 0.120 15 90749708 frameshift variant -/T delins
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1057516361
rs1057516361 		1.000 0.120 15 90761090 frameshift variant TTAGCAGCCAGCAAAT/- delins
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1057516452
rs1057516452 		1.000 0.120 15 90784975 frameshift variant CGTTACA/- delins
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1057516547
rs1057516547 		1.000 0.120 15 90804246 frameshift variant A/- del
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1057516593
rs1057516593 		1.000 0.120 15 90747394 start lost T/C snv
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1057516719
rs1057516719 		1.000 0.120 15 90794168 frameshift variant G/- delins
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0