Disease: Beckwith-Wiedemann Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224905
rs863224905
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
dbSNP: rs886039579
rs886039579
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 GeneticVariation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005
dbSNP: rs886039579
rs886039579
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
dbSNP: rs587784117
rs587784117
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 12464997 2003
dbSNP: rs587784141
rs587784141
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 GeneticVariation CLINVAR Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 14571271 2003
dbSNP: rs587784141
rs587784141
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 GeneticVariation CLINVAR NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 12464997 2003
dbSNP: rs587784148
rs587784148
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
dbSNP: rs587784173
rs587784173
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 14571271 2003
dbSNP: rs587784174
rs587784174
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 GeneticVariation CLINVAR NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 12464997 2003
dbSNP: rs587784176
rs587784176
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
dbSNP: rs863224905
rs863224905
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 14571271 2003
dbSNP: rs863224905
rs863224905
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 12464997 2003
dbSNP: rs886039579
rs886039579
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 GeneticVariation CLINVAR Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 14571271 2003
dbSNP: rs886039579
rs886039579
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 GeneticVariation CLINVAR NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 12464997 2003
dbSNP: rs1057520339
rs1057520339
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501490
rs1060501490
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501492
rs1060501492
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501493
rs1060501493
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060501494
rs1060501494
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501497
rs1060501497
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060501498
rs1060501498
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554185405
rs1554185405
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554189131
rs1554189131
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554189490
rs1554189490
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		GCAGCAAATCAAGCT 0.700 CausalMutation CLINVAR
dbSNP: rs1554190214
rs1554190214
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR