DSG4, desmoglein 4, 147409

N. diseases: 40; N. variants: 10
Disease: Total Hypotrichosis, Mari type ×
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: rs767724665
rs767724665 		0.925 0.120 18 31392303 missense variant A/G snv 8.0E-06
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015