FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
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: rs122458140
rs122458140 		0.925 0.120 X 136207825 missense variant G/C snv
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2008 2017
dbSNP: rs267606811
rs267606811 		1.000 0.120 X 136209392 missense variant G/A snv
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2008 2014
dbSNP: rs267606812
rs267606812 		1.000 X 136207828 missense variant A/G;T snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 1.000 3 2008 2009
dbSNP: rs267606813
rs267606813 		1.000 X 136207829 missense variant C/G snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 1.000 3 2008 2009
dbSNP: rs122458141
rs122458141 		1.000 0.120 X 136208625 missense variant C/G snv
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs122458142
rs122458142 		1.000 X 136207827 missense variant C/T snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 0
dbSNP: rs122458143
rs122458143 		1.000 X 136207855 missense variant G/T snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 0
dbSNP: rs122458144
rs122458144 		1.000 X 136207917 missense variant T/C;G snv
CUI: C4225159
Disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		0.800 0
dbSNP: rs122458145
rs122458145 		1.000 X 136207918 missense variant G/A snv
CUI: C4225159
Disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		0.800 0
dbSNP: rs122459146
rs122459146 		1.000 X 136207909 missense variant G/A snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 0
dbSNP: rs122459147
rs122459147 		1.000 X 136207169 missense variant T/C snv
CUI: C4225159
Disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		0.800 0
dbSNP: rs1556639379
rs1556639379 		1.000 0.120 X 136208564 frameshift variant -/G delins
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2008 2012
dbSNP: rs1556639151
rs1556639151 		1.000 0.120 X 136207878 frameshift variant AGCTT/- del
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs869025431
rs869025431 		0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060502840
rs1060502840 		1.000 0.120 X 136206492 frameshift variant G/- del
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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
dbSNP: rs122459149
rs122459149 		0.925 0.120 X 136208578 missense variant T/C snv
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556638935
rs1556638935 		1.000 0.120 X 136207170 frameshift variant -/C delins
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569530437
rs1569530437 		1.000 0.120 X 136207816 frameshift variant -/ACCG delins
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569530588
rs1569530588 		1.000 0.120 X 136208511 frameshift variant GT/- delins
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786200914
rs786200914 		1.000 0.120 X 136208642 splice donor variant G/A snv
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869025431
rs869025431 		0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs122458140
rs122458140 		0.925 0.120 X 136207825 missense variant G/C snv
CUI: C2931268
Disease: Scapuloperoneal myopathy
Scapuloperoneal myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs122458140
rs122458140 		0.925 0.120 X 136207825 missense variant G/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015