RHBDF2, rhomboid 5 homolog 2, 79651

N. diseases: 90; N. variants: 5
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: rs387907129
rs387907129 		1.000 0.160 17 76479008 missense variant A/G snv
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 2 2012 2012
dbSNP: rs387907130
rs387907130 		1.000 0.160 17 76478999 missense variant G/A snv
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 2 2012 2012
dbSNP: rs62085020
rs62085020 		17 76475878 intron variant G/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs12948783
rs12948783 		17 76503318 upstream gene variant G/A;C;T snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C4317046
Disease: Hematological abnormality
Hematological abnormality 		0.010 1.000 1 2019 2019
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014