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rs878855077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878855077(-;-)
Make rs878855077(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position177282566
GeneNSD1
is asnp
is mentioned by
dbSNPrs878855077
dbSNP (classic)rs878855077
ClinGenrs878855077
ebirs878855077
HLIrs878855077
Exacrs878855077
Gnomadrs878855077
Varsomers878855077
LitVarrs878855077
Maprs878855077
PheGenIrs878855077
Biobankrs878855077
1000 genomesrs878855077
hgdprs878855077
ensemblrs878855077
geneviewrs878855077
scholarrs878855077
googlers878855077
pharmgkbrs878855077
gwascentralrs878855077
openSNPrs878855077
23andMers878855077
SNPshotrs878855077
SNPdbers878855077
MSV3drs878855077
GWAS Ctlgrs878855077
Max Magnitude0
ClinVar
Risk rs878855077(-;-)
Alt rs878855077(-;-)
Reference Rs878855077(G;G)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176709567delG
CLNSRC
CLNACC RCV000231983.1,