FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Frontometaphyseal dysplasia ×
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: rs137853312
rs137853312 		0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2005 2006
dbSNP: rs137853317
rs137853317 		0.827 0.120 X 154367878 missense variant G/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2003 2007
dbSNP: rs1557176315
rs1557176315 		0.851 0.120 X 154353914 splice donor variant C/G snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2006 2015
dbSNP: rs1557177485
rs1557177485 		0.851 0.120 X 154359407 splice acceptor variant C/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2006 2015
dbSNP: rs786205186
rs786205186 		0.827 0.120 X 154362417 splice donor variant C/G;T snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2006 2015
dbSNP: rs797045044
rs797045044 		0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2016 2016
dbSNP: rs1060500716
rs1060500716 		0.851 0.120 X 154360127 missense variant G/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1060500718
rs1060500718 		0.851 0.120 X 154353329 frameshift variant AG/- del
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557177086
rs1557177086 		0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557177279
rs1557177279 		0.851 0.120 X 154358440 splice donor variant TTACCTCC/- delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557177623
rs1557177623 		0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557177636
rs1557177636 		0.851 0.120 X 154359897 frameshift variant G/- delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557177738
rs1557177738 		0.851 0.120 X 154360266 stop gained C/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557179357
rs1557179357 		0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569551502
rs1569551502 		0.851 0.120 X 154353958 frameshift variant G/- del
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569551861
rs1569551861 		0.851 0.120 X 154367685 stop gained G/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0