rs28932178

plus

Geno	Mag	Summary
(C;C)
(C;T)
(T;T)	0	common/normal

Reference

GRCh38 38.1/141

Chromosome

5

Position

177210575

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs28932178
dbSNP (classic)	rs28932178
ClinGen	rs28932178
ebi	rs28932178
HLI	rs28932178
Exac	rs28932178
Gnomad	rs28932178
Varsome	rs28932178
LitVar	rs28932178
Map	rs28932178
PheGenI	rs28932178
Biobank	rs28932178
1000 genomes	rs28932178
hgdp	rs28932178
ensembl	rs28932178
geneview	rs28932178
scholar	rs28932178
google	rs28932178
pharmgkb	rs28932178
gwascentral	rs28932178
openSNP	rs28932178
23andMe	rs28932178
SNPshot	rs28932178
SNPdbe	rs28932178
MSV3d	rs28932178
GWAS Ctlg	rs28932178

GMAF

0.241

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

rs28932178, also known as c.2176T>C, p.Ser726Pro and S726P, is a SNP in the NSD1 gene on chromosome 5.

Because some (rare) variants in the NSD1 gene have been linked to Sotos syndrome, an overgrowth syndrome characterized by macrocephaly and learning disabilities, and Sotos syndrome has been observed in some autistic patients, it has been hypothesized that some NSD1 variants may lead to increased risk for autism. However, there is no evidence to date in support of this hypothesis.

[PMID 18001468 ] Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

ClinVar
Risk	Rs28932178(C;C)
Alt	Rs28932178(C;C)
Reference	Rs28932178(T;T)
Significance	Non-pathogenic
Disease	not specified Sotos Syndrome Weaver syndrome
Variation	info
Gene	NSD1
CLNDBN	not specified Sotos Syndrome Weaver syndrome
Reversed	0
HGVS	NC_000005.9:g.176637576T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000082108.6, RCV000313455.1, RCV000354270.1,

[PMID 32380506] Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.