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rs797045814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045814(-;G)
Make rs797045814(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177211977
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045814
dbSNP (old)rs797045814
ClinGenrs797045814
ebirs797045814
HLIrs797045814
Exacrs797045814
Gnomadrs797045814
Varsomers797045814
Maprs797045814
PheGenIrs797045814
Biobankrs797045814
1000 genomesrs797045814
hgdprs797045814
ensemblrs797045814
gopubmedrs797045814
geneviewrs797045814
scholarrs797045814
googlers797045814
pharmgkbrs797045814
gwascentralrs797045814
openSNPrs797045814
23andMers797045814
23andMe allrs797045814
SNP Nexus

SNPshotrs797045814
SNPdbers797045814
MSV3drs797045814
GWAS Ctlgrs797045814
Max Magnitude0
ClinVar
Risk rs797045814(G;G)
Alt rs797045814(G;G)
Reference Rs797045814(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638978dupG
CLNSRC
CLNACC RCV000193789.1,