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rs797045831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045831(-;A)
Make rs797045831(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177292039
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045831
dbSNP (old)rs797045831
ClinGenrs797045831
ebirs797045831
HLIrs797045831
Exacrs797045831
Gnomadrs797045831
Varsomers797045831
Maprs797045831
PheGenIrs797045831
Biobankrs797045831
1000 genomesrs797045831
hgdprs797045831
ensemblrs797045831
gopubmedrs797045831
geneviewrs797045831
scholarrs797045831
googlers797045831
pharmgkbrs797045831
gwascentralrs797045831
openSNPrs797045831
23andMers797045831
23andMe allrs797045831
SNP Nexus

SNPshotrs797045831
SNPdbers797045831
MSV3drs797045831
GWAS Ctlgrs797045831
Max Magnitude0
ClinVar
Risk rs797045831(A;A)
Alt rs797045831(A;A)
Reference Rs797045831(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719040dupA
CLNSRC
CLNACC RCV000194467.1,