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rs797045810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045810(-;A)
Make rs797045810(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177211545
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045810
dbSNP (classic)rs797045810
ClinGenrs797045810
ebirs797045810
HLIrs797045810
Exacrs797045810
Gnomadrs797045810
Varsomers797045810
LitVarrs797045810
Maprs797045810
PheGenIrs797045810
Biobankrs797045810
1000 genomesrs797045810
hgdprs797045810
ensemblrs797045810
geneviewrs797045810
scholarrs797045810
googlers797045810
pharmgkbrs797045810
gwascentralrs797045810
openSNPrs797045810
23andMers797045810
SNPshotrs797045810
SNPdbers797045810
MSV3drs797045810
GWAS Ctlgrs797045810
Max Magnitude0
ClinVar
Risk rs797045810(A;A)
Alt rs797045810(A;A)
Reference Rs797045810(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638546dupA
CLNSRC
CLNACC RCV000195258.1,