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

rs797045813

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045813(-;T)
Make rs797045813(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177211948
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045813
ClinGenrs797045813
ebirs797045813
HLIrs797045813
Exacrs797045813
Varsomers797045813
Maprs797045813
PheGenIrs797045813
hapmaprs797045813
1000 genomesrs797045813
hgdprs797045813
ensemblrs797045813
gopubmedrs797045813
geneviewrs797045813
scholarrs797045813
googlers797045813
pharmgkbrs797045813
gwascentralrs797045813
openSNPrs797045813
23andMers797045813
23andMe allrs797045813
SNP Nexus

SNPshotrs797045813
SNPdbers797045813
MSV3drs797045813
GWAS Ctlgrs797045813
Max Magnitude0
ClinVar
Risk rs797045813(T;T)
Alt rs797045813(T;T)
Reference Rs797045813(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638949dupT
CLNSRC
CLNACC RCV000192567.1,