FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: rs1131691804
rs1131691804
0.807 0.200 15 48463123 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs111401431
rs111401431
0.763 0.200 15 48468097 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs111984349
rs111984349
0.763 0.200 15 48415759 missense variant C/T snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1131692052
rs1131692052
1.000 0.080 15 48460292 missense variant A/C snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113543334
rs113543334
0.763 0.200 15 48432944 missense variant A/G snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113871094
rs113871094
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs140583
rs140583
0.763 0.200 15 48495219 stop gained G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555397718
rs1555397718
0.776 0.200 15 48474566 missense variant C/A;T snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555400373
rs1555400373
0.763 0.200 15 48515393 missense variant A/G snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1566899590
rs1566899590
0.776 0.200 15 48448894 splice acceptor variant C/T snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1566911957
rs1566911957
0.776 0.200 15 48496204 frameshift variant GTACACATTCA/- delins
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922185
rs193922185
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922204
rs193922204
0.763 0.200 15 48468542 splice region variant C/T snv 4.0E-06 7.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922228
rs193922228
0.763 0.200 15 48430736 missense variant A/G snv 7.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906622
rs387906622
0.925 0.080 15 48463210 missense variant T/C snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906624
rs387906624
0.925 0.080 15 48463124 missense variant C/T snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906626
rs387906626
1.000 0.080 15 48463207 missense variant T/C snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776863
rs587776863
1.000 0.080 15 48463101 inframe insertion -/GTT delins
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs71467648
rs71467648
0.776 0.200 15 48437898 stop gained A/C;T snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs727503057
rs727503057
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs730880099
rs730880099
0.742 0.200 15 48510125 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0