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rs587784068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784068(-;-)
Make rs587784068(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177204133
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784068
dbSNP (classic)rs587784068
ClinGenrs587784068
ebirs587784068
HLIrs587784068
Exacrs587784068
Gnomadrs587784068
Varsomers587784068
LitVarrs587784068
Maprs587784068
PheGenIrs587784068
Biobankrs587784068
1000 genomesrs587784068
hgdprs587784068
ensemblrs587784068
geneviewrs587784068
scholarrs587784068
googlers587784068
pharmgkbrs587784068
gwascentralrs587784068
openSNPrs587784068
23andMers587784068
SNPshotrs587784068
SNPdbers587784068
MSV3drs587784068
GWAS Ctlgrs587784068
Max Magnitude0
ClinVar
Risk rs587784068(-;-)
Alt rs587784068(-;-)
Reference Rs587784068(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176631134delG
CLNSRC
CLNACC RCV000146757.1,