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: rs367543019
rs367543019 		1.000 0.120 15 90769518 frameshift variant -/A 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 2 2007 2015
dbSNP: rs1057517154
rs1057517154 		1.000 0.120 15 90804274 frameshift variant -/A delins 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 0
dbSNP: rs1555419902
rs1555419902 		1.000 0.120 15 90760919 frameshift variant -/A 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: rs786204471
rs786204471 		1.000 0.120 15 90766966 frameshift variant -/AAAT ins 8.0E-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: rs1555419806
rs1555419806 		1.000 0.120 15 90760666 frameshift variant -/C 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: rs1567066891
rs1567066891 		1.000 0.120 15 90811287 frameshift variant -/C 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: rs1555420844
rs1555420844 		1.000 0.120 15 90769170 frameshift variant -/CT 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: rs1057517359
rs1057517359 		1.000 0.120 15 90754853 stop gained -/CTTA 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: rs772785079
rs772785079 		1.000 0.120 15 90763050 frameshift variant -/G delins 1.2E-05 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 2 2007 2015
dbSNP: rs1555419862
rs1555419862 		1.000 0.120 15 90760768 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
dbSNP: rs1555420842
rs1555420842 		1.000 0.120 15 90769165 frameshift variant -/GA 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: rs886051551
rs886051551 		1.000 0.120 15 90766921 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 6 1995 2016
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: 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: rs1567038003
rs1567038003 		1.000 0.120 15 90754893 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: rs781221411
rs781221411 		1.000 0.120 15 90749586 frameshift variant -/T delins 1.2E-05 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 0
dbSNP: rs797045115
rs797045115 		1.000 0.120 15 90790839 frameshift variant -/TATCA ins
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: rs1567045130
rs1567045130 		1.000 0.120 15 90769178 frameshift variant -/TT ins
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: rs1057517431
rs1057517431 		1.000 0.120 15 90761166 frameshift variant A/- 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: rs1245531016
rs1245531016 		1.000 0.120 15 90785064 frameshift variant A/- 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: rs1275708646
rs1275708646 		1.000 0.120 15 90809137 frameshift variant A/- delins 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 0
dbSNP: rs1555419724
rs1555419724 		1.000 0.120 15 90760210 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: rs1555424376
rs1555424376 		1.000 0.120 15 90804197 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: rs1567045531
rs1567045531 		1.000 0.120 15 90769537 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