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: rs1562305920
rs1562305920
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs587784117
rs587784117
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs587784173
rs587784173
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs587784199
rs587784199
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Somatic-gonadal mosaicism causing Sotos syndrome. 27604501 2016
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: rs587784176
rs587784176
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1. 24412544 2014
dbSNP: rs587784095
rs587784095
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. 22924495 2012
dbSNP: rs587784148
rs587784148
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. 22924495 2012
dbSNP: rs587784191
rs587784191
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. 22924495 2012
dbSNP: rs1562305920
rs1562305920
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome. 21972110 2011
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: rs1554189512
rs1554189512
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		TA 0.700 CausalMutation CLINVAR Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. 16232326 2005
dbSNP: rs1562305497
rs1562305497
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 CausalMutation CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365 2005
dbSNP: rs1562305497
rs1562305497
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005
dbSNP: rs1562305920
rs1562305920
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
dbSNP: rs587784095
rs587784095
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation 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 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 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
dbSNP: rs587784148
rs587784148
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005
dbSNP: rs587784173
rs587784173
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
dbSNP: rs587784191
rs587784191
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005
dbSNP: rs587784199
rs587784199
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005
dbSNP: rs587784199
rs587784199
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365 2005
dbSNP: rs587784199
rs587784199
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
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