FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Disease: Emery-Dreifuss Muscular Dystrophy 6, X-Linked ×
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: rs122459148
rs122459148 		1.000 0.120 X 136210023 stop lost T/G snv
CUI: C2749106
Disease: Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs122459149
rs122459149 		0.925 0.120 X 136208578 missense variant T/C snv
CUI: C2749106
Disease: Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0