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rs587784082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAT;ACAT) 0 common in clinvar
Make rs587784082(-;-)
Make rs587784082(-;TACA)
Make rs587784082(TACA;TACA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210523
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784082
dbSNP (classic)rs587784082
ClinGenrs587784082
ebirs587784082
HLIrs587784082
Exacrs587784082
Gnomadrs587784082
Varsomers587784082
LitVarrs587784082
Maprs587784082
PheGenIrs587784082
Biobankrs587784082
1000 genomesrs587784082
hgdprs587784082
ensemblrs587784082
geneviewrs587784082
scholarrs587784082
googlers587784082
pharmgkbrs587784082
gwascentralrs587784082
openSNPrs587784082
23andMers587784082
SNPshotrs587784082
SNPdbers587784082
MSV3drs587784082
GWAS Ctlgrs587784082
Max Magnitude0
ClinVar
Risk rs587784082(-;-)
Alt rs587784082(-;-)
Reference Rs587784082(ACAT;ACAT)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637524_176637527delTACA
CLNSRC
CLNACC RCV000146779.1,