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rs797045817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045817(-;G)
Make rs797045817(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177239845
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045817
dbSNP (old)rs797045817
ClinGenrs797045817
ebirs797045817
HLIrs797045817
Exacrs797045817
Gnomadrs797045817
Varsomers797045817
Maprs797045817
PheGenIrs797045817
Biobankrs797045817
1000 genomesrs797045817
hgdprs797045817
ensemblrs797045817
gopubmedrs797045817
geneviewrs797045817
scholarrs797045817
googlers797045817
pharmgkbrs797045817
gwascentralrs797045817
openSNPrs797045817
23andMers797045817
23andMe allrs797045817
SNP Nexus

SNPshotrs797045817
SNPdbers797045817
MSV3drs797045817
GWAS Ctlgrs797045817
Max Magnitude0
ClinVar
Risk rs797045817(G;G)
Alt rs797045817(G;G)
Reference Rs797045817(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176666846dupG
CLNSRC
CLNACC RCV000193716.1,