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rs587784124

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587784124(-;-)
Make rs587784124(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177251819
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784124
ebirs587784124
HLIrs587784124
Exacrs587784124
Varsomers587784124
Maprs587784124
PheGenIrs587784124
hapmaprs587784124
1000 genomesrs587784124
hgdprs587784124
ensemblrs587784124
gopubmedrs587784124
geneviewrs587784124
scholarrs587784124
googlers587784124
pharmgkbrs587784124
gwascentralrs587784124
openSNPrs587784124
23andMers587784124
23andMe allrs587784124
SNP Nexus

SNPshotrs587784124
SNPdbers587784124
MSV3drs587784124
GWAS Ctlgrs587784124
Max Magnitude0
ClinVar
Risk rs587784124(;)
Alt rs587784124(;)
Reference rs587784124(AA;AA)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176678820_176678821delAA
CLNSRC
CLNACC RCV000146846.1,