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rs797045824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045824(-;C)
Make rs797045824(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177280732
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045824
dbSNP (old)rs797045824
ClinGenrs797045824
ebirs797045824
HLIrs797045824
Exacrs797045824
Gnomadrs797045824
Varsomers797045824
Maprs797045824
PheGenIrs797045824
Biobankrs797045824
1000 genomesrs797045824
hgdprs797045824
ensemblrs797045824
gopubmedrs797045824
geneviewrs797045824
scholarrs797045824
googlers797045824
pharmgkbrs797045824
gwascentralrs797045824
openSNPrs797045824
23andMers797045824
23andMe allrs797045824
SNP Nexus

SNPshotrs797045824
SNPdbers797045824
MSV3drs797045824
GWAS Ctlgrs797045824
Max Magnitude0
ClinVar
Risk rs797045824(C;C)
Alt rs797045824(C;C)
Reference Rs797045824(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176707733dupC
CLNSRC
CLNACC RCV000193011.1,