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rs797045812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045812(-;T)
Make rs797045812(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177211715
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045812
dbSNP (old)rs797045812
ClinGenrs797045812
ebirs797045812
HLIrs797045812
Exacrs797045812
Gnomadrs797045812
Varsomers797045812
Maprs797045812
PheGenIrs797045812
Biobankrs797045812
1000 genomesrs797045812
hgdprs797045812
ensemblrs797045812
gopubmedrs797045812
geneviewrs797045812
scholarrs797045812
googlers797045812
pharmgkbrs797045812
gwascentralrs797045812
openSNPrs797045812
23andMers797045812
23andMe allrs797045812
SNP Nexus

SNPshotrs797045812
SNPdbers797045812
MSV3drs797045812
GWAS Ctlgrs797045812
Max Magnitude0
ClinVar
Risk rs797045812(T;T)
Alt rs797045812(T;T)
Reference Rs797045812(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638716dupT
CLNSRC
CLNACC RCV000194330.1,