SOX5, SRY-box transcription factor 5, 6660

N. diseases: 150; N. variants: 37
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: rs11047102
rs11047102
0.925 0.160 12 23793212 intron variant C/T snv 7.9E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.800 1.000 1 2011 2011