rs7175472
SPRED1;LOC107984760
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700
GeneticVariation
GWASCAT
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
30019117
2018
rs7175472
SPRED1;LOC107984760
Adolescent idiopathic scoliosis
0.700
GeneticVariation
GWASCAT
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
30019117
2018
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
24334617
2013
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
24334617
2013
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
24334617
2013
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Review and update of SPRED1 mutations causing Legius syndrome.
22753041
2012
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Review and update of SPRED1 mutations causing Legius syndrome.
22753041
2012
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Review and update of SPRED1 mutations causing Legius syndrome.
22753041
2012
rs1555392609
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.700
CausalMutation
CLINVAR
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
22751498
2012
rs121434313
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs121434315
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs1555391053
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
TA
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Observations on intelligence and behavior in 15 patients with Legius syndrome.
21495177
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Observations on intelligence and behavior in 15 patients with Legius syndrome.
21495177
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Identification of five novel SPRED1 germline mutations in Legius syndrome.
21649642
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
21548021
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Identification of five novel SPRED1 germline mutations in Legius syndrome.
21649642
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Observations on intelligence and behavior in 15 patients with Legius syndrome.
21495177
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
21548021
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Identification of five novel SPRED1 germline mutations in Legius syndrome.
21649642
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
21548021
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs1566876954
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
G
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011