EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Periorbital hyperpigmentation ×
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: rs1131692034
rs1131692034 		0.790 0.160 X 69616488 stop gained C/A snv
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		0.700 0