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rs797045819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045819(-;AGAGATTCCA)
Make rs797045819(AGAGATTCCA;AGAGATTCCA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177246787
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045819
ClinGenrs797045819
ebirs797045819
HLIrs797045819
Exacrs797045819
Varsomers797045819
Maprs797045819
PheGenIrs797045819
hapmaprs797045819
1000 genomesrs797045819
hgdprs797045819
ensemblrs797045819
gopubmedrs797045819
geneviewrs797045819
scholarrs797045819
googlers797045819
pharmgkbrs797045819
gwascentralrs797045819
openSNPrs797045819
23andMers797045819
23andMe allrs797045819
SNP Nexus

SNPshotrs797045819
SNPdbers797045819
MSV3drs797045819
GWAS Ctlgrs797045819
Max Magnitude0
ClinVar
Risk rs797045819(AAGAGATTCC;AAGAGATTCC)
Alt rs797045819(AAGAGATTCC;AAGAGATTCC)
Reference Rs797045819(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176673779_176673788dupAGAGATTCCA
CLNSRC
CLNACC RCV000192768.1,