SERPINB6, serpin family B member 6, 5269

N. diseases: 128; 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: rs73718779
rs73718779 		0.925 0.120 6 2969044 5 prime UTR variant C/T snv 0.17
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs73718779
rs73718779 		0.925 0.120 6 2969044 5 prime UTR variant C/T snv 0.17
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267607037
rs267607037 		1.000 6 2948696 stop gained C/A snv
CUI: C3150704
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 91
DEAFNESS, AUTOSOMAL RECESSIVE 91 		0.700 0
dbSNP: rs1325863623
rs1325863623 		6 2953175 missense variant C/T snv 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2020 2020