Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562305920
rs1562305920
NSD1
G 0.700 GeneticVariation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs587784117
rs587784117
NSD1
T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs587784173
rs587784173
NSD1
T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs587784199
rs587784199
NSD1
T 0.700 CausalMutation CLINVAR Somatic-gonadal mosaicism causing Sotos syndrome. 27604501

2016
dbSNP: rs483352966
rs483352966
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352968
rs483352968
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352970
rs483352970
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352981
rs483352981
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs587784174
rs587784174
NSD1
A 0.700 GeneticVariation CLINVAR NSD1 mutations generate a genome-wide DNA methylation signature. 26690673

2015
dbSNP: rs587784176
rs587784176
NSD1
T 0.700 CausalMutation CLINVAR Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1. 24412544

2014
dbSNP: rs587784095
rs587784095
NSD1
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
NSD1
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
NSD1
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
NSD1
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
NSD1
A 0.700 GeneticVariation CLINVAR The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. 21196496

2011
dbSNP: rs1554189512
rs1554189512
NSD1
TA 0.700 CausalMutation CLINVAR Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. 16232326

2005
dbSNP: rs1562305497
rs1562305497
NSD1
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
NSD1
G 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005
dbSNP: rs1562305920
rs1562305920
NSD1
G 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875

2005
dbSNP: rs587784095
rs587784095
NSD1
T 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005
dbSNP: rs587784141
rs587784141
NSD1
C 0.700 GeneticVariation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005
dbSNP: rs587784141
rs587784141
NSD1
C 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875

2005
dbSNP: rs587784148
rs587784148
NSD1
T 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005
dbSNP: rs587784173
rs587784173
NSD1
T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875

2005
dbSNP: rs587784191
rs587784191
NSD1
G 0.700 GeneticVariation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005