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rs797045808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs797045808(CT;G)
Make rs797045808(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177210589
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045808
dbSNP (classic)rs797045808
ClinGenrs797045808
ebirs797045808
HLIrs797045808
Exacrs797045808
Gnomadrs797045808
Varsomers797045808
LitVarrs797045808
Maprs797045808
PheGenIrs797045808
Biobankrs797045808
1000 genomesrs797045808
hgdprs797045808
ensemblrs797045808
geneviewrs797045808
scholarrs797045808
googlers797045808
pharmgkbrs797045808
gwascentralrs797045808
openSNPrs797045808
23andMers797045808
SNPshotrs797045808
SNPdbers797045808
MSV3drs797045808
GWAS Ctlgrs797045808
Max Magnitude0
ClinVar
Risk rs797045808(G;G)
Alt rs797045808(G;G)
Reference Rs797045808(CT;CT)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637590_176637591delCTinsG
CLNSRC
CLNACC RCV000193174.1,