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rs797045811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAGAGG;AAAGAGG) 0 common in clinvar
Make rs797045811(-;-)
Make rs797045811(-;AAAGAGG)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177211658
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045811
dbSNP (old)rs797045811
ClinGenrs797045811
ebirs797045811
HLIrs797045811
Exacrs797045811
Gnomadrs797045811
Varsomers797045811
Maprs797045811
PheGenIrs797045811
Biobankrs797045811
1000 genomesrs797045811
hgdprs797045811
ensemblrs797045811
gopubmedrs797045811
geneviewrs797045811
scholarrs797045811
googlers797045811
pharmgkbrs797045811
gwascentralrs797045811
openSNPrs797045811
23andMers797045811
23andMe allrs797045811
SNP Nexus

SNPshotrs797045811
SNPdbers797045811
MSV3drs797045811
GWAS Ctlgrs797045811
Max Magnitude0
ClinVar
Risk rs797045811(-;-)
Alt rs797045811(-;-)
Reference Rs797045811(AAAGAGG;AAAGAGG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638659_176638665delAAAGAGG
CLNSRC
CLNACC RCV000193091.1,