RHBDF1, rhomboid 5 homolog 1, 64285

N. diseases: 41; N. variants: 4
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: rs2562152
rs2562152 		0.882 0.040 16 73898 intron variant A/T snv 0.67
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2562152
rs2562152 		0.882 0.040 16 73898 intron variant A/T snv 0.67
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2562152
rs2562152 		0.882 0.040 16 73898 intron variant A/T snv 0.67
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2562152
rs2562152 		0.882 0.040 16 73898 intron variant A/T snv 0.67
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6600227
rs6600227 		16 65074 intron variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs77546475
rs77546475 		16 65509 intron variant G/A snv 2.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3176364
rs3176364 		1.000 0.120 16 77578 intron variant G/C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2010 2010