SOX18, SRY-box transcription factor 18, 54345

N. diseases: 112; 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: rs28936692
rs28936692 		1.000 0.120 20 64049207 missense variant C/G snv 7.1E-06
CUI: C1843004
Disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2003 2003
dbSNP: rs28936693
rs28936693 		1.000 0.120 20 64049234 missense variant A/T snv
CUI: C1843004
Disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2003 2003
dbSNP: rs794728015
rs794728015 		1.000 0.120 20 64048840 stop gained G/A snv
CUI: C1843004
Disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 3 2003 2016
dbSNP: rs1210062863
rs1210062863 		0.925 0.120 20 64048609 stop gained C/A;T snv 7.0E-06
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1210062863
rs1210062863 		0.925 0.120 20 64048609 stop gained C/A;T snv 7.0E-06
CUI: C4021653
Disease: Generalized hypotrichosis
Generalized hypotrichosis 		0.700 1.000 1 2018 2018
dbSNP: rs1210062863
rs1210062863 		0.925 0.120 20 64048609 stop gained C/A;T snv 7.0E-06
CUI: C0240278
Disease: Lymphatic obstruction
Lymphatic obstruction 		Hemic and Lymphatic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1210062863
rs1210062863 		0.925 0.120 20 64048609 stop gained C/A;T snv 7.0E-06
CUI: C4317151
Disease: Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs74315430
rs74315430 		1.000 0.120 20 64048601 stop gained G/T snv
CUI: C4317151
Disease: Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0