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rs587784198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784198(-;-)
Make rs587784198(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292126
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784198
dbSNP (classic)rs587784198
ClinGenrs587784198
ebirs587784198
HLIrs587784198
Exacrs587784198
Gnomadrs587784198
Varsomers587784198
LitVarrs587784198
Maprs587784198
PheGenIrs587784198
Biobankrs587784198
1000 genomesrs587784198
hgdprs587784198
ensemblrs587784198
geneviewrs587784198
scholarrs587784198
googlers587784198
pharmgkbrs587784198
gwascentralrs587784198
openSNPrs587784198
23andMers587784198
SNPshotrs587784198
SNPdbers587784198
MSV3drs587784198
GWAS Ctlgrs587784198
Max Magnitude0
ClinVar
Risk rs587784198(-;-)
Alt rs587784198(-;-)
Reference Rs587784198(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719127delC
CLNSRC
CLNACC RCV000146928.1,