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rs797045807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045807(-;A)
Make rs797045807(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177210566
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045807
dbSNP (classic)rs797045807
ClinGenrs797045807
ebirs797045807
HLIrs797045807
Exacrs797045807
Gnomadrs797045807
Varsomers797045807
LitVarrs797045807
Maprs797045807
PheGenIrs797045807
Biobankrs797045807
1000 genomesrs797045807
hgdprs797045807
ensemblrs797045807
geneviewrs797045807
scholarrs797045807
googlers797045807
pharmgkbrs797045807
gwascentralrs797045807
openSNPrs797045807
23andMers797045807
SNPshotrs797045807
SNPdbers797045807
MSV3drs797045807
GWAS Ctlgrs797045807
Max Magnitude0
ClinVar
Risk rs797045807(A;A)
Alt rs797045807(A;A)
Reference Rs797045807(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637567dupA
CLNSRC
CLNACC RCV000194942.1,