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rs587784143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784143(A;A)
Make rs587784143(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269673
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784143
dbSNP (old)rs587784143
ClinGenrs587784143
ebirs587784143
HLIrs587784143
Exacrs587784143
Varsomers587784143
Maprs587784143
PheGenIrs587784143
Biobankrs587784143
1000 genomesrs587784143
hgdprs587784143
ensemblrs587784143
gopubmedrs587784143
geneviewrs587784143
scholarrs587784143
googlers587784143
pharmgkbrs587784143
gwascentralrs587784143
openSNPrs587784143
23andMers587784143
23andMe allrs587784143
SNP Nexus

SNPshotrs587784143
SNPdbers587784143
MSV3drs587784143
GWAS Ctlgrs587784143
Max Magnitude0
ClinVar
Risk rs587784143(A;A)
Alt rs587784143(A;A)
Reference Rs587784143(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696674G>A
CLNSRC
CLNACC RCV000146870.1,