rs10896064
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
Basal Cell Neoplasm
G
0.700
GeneticVariation
GWASCAT
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
31174203
2019
rs10896064
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
Basal Cell Cancer
G
0.700
GeneticVariation
GWASCAT
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
31174203
2019
rs10896064
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
Basal cell carcinoma
G
0.700
GeneticVariation
GWASCAT
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
31174203
2019
rs2234458
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
Body mass index
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs1555042727
EFEMP2;MUS81
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CG
0.700
GeneticVariation
CLINVAR
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
27339457
2016
rs888015688
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
G
0.700
GeneticVariation
CLINVAR
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
17937443
2007
rs1555042727
EFEMP2;MUS81
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CG
0.700
GeneticVariation
CLINVAR
Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia.
2038931
1991
rs119489101
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
T
0.700
CausalMutation
CLINVAR
rs119489102
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
A
0.700
CausalMutation
CLINVAR
rs193302864
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
G
0.700
CausalMutation
CLINVAR
rs193302865
EFEMP2;MUS81
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
AGCGG
0.700
CausalMutation
CLINVAR
rs193302866
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
T
0.700
CausalMutation
CLINVAR
rs193302867
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
T
0.700
CausalMutation
CLINVAR
rs193302868
EFEMP2;MUS81
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
T
0.700
CausalMutation
CLINVAR
rs193302869
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
A
0.700
CausalMutation
CLINVAR
rs193302870
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
T
0.700
CausalMutation
CLINVAR
rs397514683
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
A
0.700
CausalMutation
CLINVAR
rs119489101
×
Entrez Id:
30008
Gene Symbol:
EFEMP2
EFEMP2
Cutis laxa, recessive
0.010
GeneticVariation
BEFREE
Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.
26178373
2015