Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750777752
rs750777752
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071 2011
dbSNP: rs878855228
rs878855228
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		C 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071 2011
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? 20339110 2010
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? 20339110 2010
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR SPRED 1 mutations in a neurofibromatosis clinic. 20179001 2010
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR SPRED 1 mutations in a neurofibromatosis clinic. 20179001 2010
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? 20339110 2010
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR SPRED 1 mutations in a neurofibromatosis clinic. 20179001 2010
dbSNP: rs750777752
rs750777752
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR SPRED 1 mutations in a neurofibromatosis clinic. 20179001 2010
dbSNP: rs121434313
rs121434313
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
dbSNP: rs121434315
rs121434315
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998 2009
dbSNP: rs121434316
rs121434316
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465 2009
dbSNP: rs1555392032
rs1555392032
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998 2009
dbSNP: rs1566876954
rs1566876954
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		G 0.700 CausalMutation CLINVAR SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465 2009
dbSNP: rs1566876954
rs1566876954
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		G 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
dbSNP: rs750777752
rs750777752
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
dbSNP: rs878855228
rs878855228
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C1969623
Disease:
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		C 0.700 CausalMutation CLINVAR SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465 2009