LYST, lysosomal trafficking regulator, 1130

N. diseases: 114; N. variants: 18
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: rs80338652
rs80338652 		1.000 0.160 1 235805826 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C4016993
Disease: CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE 		0.700 0
dbSNP: rs151337641
rs151337641 		1.000 0.080 1 235781046 missense variant A/G snv 6.8E-05 1.8E-04
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1078859
rs1078859 		1 235748725 intron variant C/A snv 0.26
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs4660116
rs4660116 		1.000 0.080 1 235865541 intron variant T/C snv 0.81
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9782955
rs9782955 		1.000 0.080 1 235876577 intron variant T/C snv 0.82
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2009 2015