{{Rsnum
|rsid=28932178
|Gene=NSD1
|Chromosome=5
|position=177210575
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.241
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NSD1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 1.8 | 21.2 | 77.0
| HCB | 29.9 | 56.2 | 13.9
| JPT | 21.2 | 47.8 | 31.0
| YRI | 2.7 | 10.9 | 86.4
| ASW | 1.8 | 24.6 | 73.7
| CHB | 29.9 | 56.2 | 13.9
| CHD | 22.9 | 47.7 | 29.4
| GIH | 10.9 | 34.7 | 54.5
| LWK | 0.9 | 20.2 | 78.9
| MEX | 12.1 | 29.3 | 58.6
| MKK | 1.3 | 19.9 | 78.8
| TSI | 1.0 | 26.5 | 72.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=28932178
|allele=C
|frequency=
|uid=1103654302880
|type=heterozygous_SNP
|hugo=NSD1
|ensembl gene=ENSG00000165671
|ensembl transcript=ENST00000355783
|sift=
|disease=A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.
}}

{{PMID|18001468|OA=1
}} Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

{{GET Evidence
|gene=NSD1
|aa_change=Ser726Pro
|aa_change_short=S726P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs28932178
|overall_frequency_n=1388
|overall_frequency_d=10758
|overall_frequency=0.12902
|n_genomes=19
|n_genomes_annotated=0
|n_haplomes=21
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.92
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=4
|n_web_uneval=7
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}