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: rs1554185405
rs1554185405
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554190247
rs1554190247
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1562097849
rs1562097849
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587784169
rs587784169
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587784174
rs587784174
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 GeneticVariation CLINVAR The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. 21196496 2011
dbSNP: rs587784174
rs587784174
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 GeneticVariation CLINVAR NSD1 mutations generate a genome-wide DNA methylation signature. 26690673 2015
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: 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 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 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 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
dbSNP: rs1562265336
rs1562265336
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs1554195840
rs1554195840
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		ATC 0.700 CausalMutation CLINVAR
dbSNP: rs1554204923
rs1554204923
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		ATT 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: rs1554190214
rs1554190214
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554204952
rs1554204952
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1562278357
rs1562278357
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587784104
rs587784104
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587784141
rs587784141
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 GeneticVariation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005
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 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
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: rs863224905
rs863224905
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005