Have questions? Visit https://www.reddit.com/r/SNPedia

rs28932178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C)
(C;T)
(T;T) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome5
Position177210575
GeneNSD1
is asnp
is mentioned by
dbSNPrs28932178
dbSNP (classic)rs28932178
ClinGenrs28932178
ebirs28932178
HLIrs28932178
Exacrs28932178
Gnomadrs28932178
Varsomers28932178
LitVarrs28932178
Maprs28932178
PheGenIrs28932178
Biobankrs28932178
1000 genomesrs28932178
hgdprs28932178
ensemblrs28932178
geneviewrs28932178
scholarrs28932178
googlers28932178
pharmgkbrs28932178
gwascentralrs28932178
openSNPrs28932178
23andMers28932178
SNPshotrs28932178
SNPdbers28932178
MSV3drs28932178
GWAS Ctlgrs28932178
GMAF0.241
Max Magnitude0
? (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 18001468OA-icon.png] 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.