SOX18, SRY-box transcription factor 18, 54345

N. diseases: 112; N. variants: 5
Disease: Telangiectasia of the skin ×
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: 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