EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
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: rs2518683
rs2518683 		22 29299939 intron variant T/A;G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1345502723
rs1345502723 		1.000 0.080 22 29272423 missense variant A/G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs138287627
rs138287627 		1.000 0.040 22 29297943 missense variant C/T snv 6.8E-05 9.1E-05
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs200670756
rs200670756 		1.000 0.080 22 29297869 missense variant G/A snv 1.2E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2857461
rs2857461 		0.882 0.160 22 29272015 intron variant C/T snv 0.98
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2857461
rs2857461 		0.882 0.160 22 29272015 intron variant C/T snv 0.98
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2857461
rs2857461 		0.882 0.160 22 29272015 intron variant C/T snv 0.98
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4820804
rs4820804 		1.000 0.040 22 29273704 intron variant T/C snv 0.40 0.35
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		Neoplasms 0.010 1.000 1 2012 2012