RECQL5, RecQ like helicase 5, 9400

N. diseases: 28; N. variants: 2
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: rs820196
rs820196 		0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 1.000 2 2014 2015
dbSNP: rs820196
rs820196 		0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 1.000 2 2014 2015
dbSNP: rs820196
rs820196 		0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 1.000 2 2014 2015
dbSNP: rs4789223
rs4789223 		0.851 0.120 17 75645819 intron variant G/A snv 0.46
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4789223
rs4789223 		0.851 0.120 17 75645819 intron variant G/A snv 0.46
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4789223
rs4789223 		0.851 0.120 17 75645819 intron variant G/A snv 0.46
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4789223
rs4789223 		0.851 0.120 17 75645819 intron variant G/A snv 0.46
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs820196
rs820196 		0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs820196
rs820196 		0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs820196
rs820196 		0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014