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rs797045833

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045833(-;TCC)
Make rs797045833(TCC;TCC)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177293911
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045833
ClinGenrs797045833
ebirs797045833
HLIrs797045833
Exacrs797045833
Varsomers797045833
Maprs797045833
PheGenIrs797045833
hapmaprs797045833
1000 genomesrs797045833
hgdprs797045833
ensemblrs797045833
gopubmedrs797045833
geneviewrs797045833
scholarrs797045833
googlers797045833
pharmgkbrs797045833
gwascentralrs797045833
openSNPrs797045833
23andMers797045833
23andMe allrs797045833
SNP Nexus

SNPshotrs797045833
SNPdbers797045833
MSV3drs797045833
GWAS Ctlgrs797045833
Max Magnitude0
ClinVar
Risk rs797045833(CTC;CTC)
Alt rs797045833(CTC;CTC)
Reference Rs797045833(;)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720910_176720912dupTCC
CLNSRC
CLNACC RCV000193506.1,