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: 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: rs137853153
rs137853153 		1.000 0.120 15 90794254 missense 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 0.800 1.000 5 1995 2009
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: rs367543043
rs367543043 		1.000 0.120 15 90760909 frameshift variant A/-;AA 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 4 1995 2017
dbSNP: rs1057516261
rs1057516261 		1.000 0.120 15 90811327 frameshift variant AGGAA/- 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 3 1997 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: rs137853152
rs137853152 		1.000 0.120 15 90769559 missense variant 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 3 1995 2000
dbSNP: rs367543013
rs367543013 		1.000 0.120 15 90750036 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 1.000 3 2007 2015
dbSNP: rs367543033
rs367543033 		1.000 0.120 15 90803637 frameshift variant TT/- 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 3 2007 2015
dbSNP: rs587779886
rs587779886 		1.000 0.120 15 90794359 splice donor variant T/- del 2.8E-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 3 2007 2018
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: 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: 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: rs1060500652
rs1060500652 		1.000 0.120 15 90765413 splice donor variant GTAAGTTAT/- 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 1.000 1 2007 2007
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: rs11852361
rs11852361 		1.000 0.080 15 90782869 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1555424368
rs1555424368 		1.000 0.120 15 90804166 splice acceptor variant G/A 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: rs1555424890
rs1555424890 		1.000 0.120 15 90809261 splice donor variant 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 1.000 1 2007 2007
dbSNP: rs1555425063
rs1555425063 		1.000 0.120 15 90811230 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 1.000 1 1997 1997
dbSNP: rs1555425080
rs1555425080 		1.000 0.120 15 90811286 frameshift variant T/- 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 1997 1997
dbSNP: rs1567052324
rs1567052324 		1.000 0.120 15 90782930 splice donor variant 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 1.000 1 2007 2007
dbSNP: rs16944884
rs16944884 		0.925 0.080 15 90816410 upstream gene variant T/A snv 8.3E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs16944884
rs16944884 		0.925 0.080 15 90816410 upstream gene variant T/A snv 8.3E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
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