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rs797045809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045809(-;T)
Make rs797045809(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177211258
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045809
dbSNP (classic)rs797045809
ClinGenrs797045809
ebirs797045809
HLIrs797045809
Exacrs797045809
Gnomadrs797045809
Varsomers797045809
LitVarrs797045809
Maprs797045809
PheGenIrs797045809
Biobankrs797045809
1000 genomesrs797045809
hgdprs797045809
ensemblrs797045809
geneviewrs797045809
scholarrs797045809
googlers797045809
pharmgkbrs797045809
gwascentralrs797045809
openSNPrs797045809
23andMers797045809
SNPshotrs797045809
SNPdbers797045809
MSV3drs797045809
GWAS Ctlgrs797045809
Max Magnitude0
ClinVar
Risk rs797045809(T;T)
Alt rs797045809(T;T)
Reference Rs797045809(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638259dupT
CLNSRC
CLNACC RCV000194421.1,