SLC7A5, solute carrier family 7 member 5, 8140

N. diseases: 173; N. variants: 3
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: rs68149176
rs68149176 		16 87852884 intron variant C/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs68149176
rs68149176 		16 87852884 intron variant C/G;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs11865049
rs11865049 		1.000 0.040 16 87840534 intron variant G/A snv 6.3E-02
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4240803
rs4240803 		0.851 0.240 16 87855597 intron variant G/A;C;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4240803
rs4240803 		0.851 0.240 16 87855597 intron variant G/A;C;T snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4240803
rs4240803 		0.851 0.240 16 87855597 intron variant G/A;C;T snv
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		Digestive System Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4240803
rs4240803 		0.851 0.240 16 87855597 intron variant G/A;C;T snv
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017