RBFOX1, RNA binding fox-1 homolog 1, 54715

N. diseases: 103; N. variants: 76
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome ×
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: rs368977885
rs368977885 		1.000 0.040 16 7040929 intron variant GG/-;G;GGG delins
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016