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: rs1232880706
rs1232880706
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.700 0
dbSNP: rs1232880706
rs1232880706
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening
0.700 0
dbSNP: rs112550005
rs112550005
0.742 0.240 15 48425829 stop gained G/A snv
Abnormality of cardiovascular system morphology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs397515789
rs397515789
0.776 0.240 15 48488112 splice donor variant C/A;T snv
Abnormality of cardiovascular system morphology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs727503057
rs727503057
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
Abnormality of cardiovascular system morphology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519320
rs1057519320
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue
0.700 0
dbSNP: rs112550005
rs112550005
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
0.700 0
dbSNP: rs727503057
rs727503057
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
0.700 0
dbSNP: rs1566902569
rs1566902569
0.882 0.160 15 48460299 missense variant C/A snv
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland
0.700 0
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