FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111401431
rs111401431
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs111984349
rs111984349
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
T 0.700 CausalMutation CLINVAR
dbSNP: rs113543334
rs113543334
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
G 0.700 GeneticVariation CLINVAR
dbSNP: rs113871094
rs113871094
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs137854480
rs137854480
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs140583
rs140583
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555396783
rs1555396783
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555397413
rs1555397413
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555397718
rs1555397718
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555400373
rs1555400373
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1566899590
rs1566899590
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1566911957
rs1566911957
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
G 0.700 CausalMutation CLINVAR
dbSNP: rs193922185
rs193922185
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs193922204
rs193922204
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922228
rs193922228
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
G 0.700 CausalMutation CLINVAR
dbSNP: rs397515757
rs397515757
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
T 0.700 CausalMutation CLINVAR
dbSNP: rs71467648
rs71467648
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
T 0.700 GeneticVariation CLINVAR
dbSNP: rs727503054
rs727503054
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
G 0.700 GeneticVariation CLINVAR
dbSNP: rs727503057
rs727503057
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs730880099
rs730880099
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs794728195
rs794728195
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs794728208
rs794728208
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
T 0.700 CausalMutation CLINVAR
dbSNP: rs794728334
rs794728334
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant
T 0.700 GeneticVariation CLINVAR