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rs587784145

From SNPedia

Orientationplus
Geno Mag Summary
(TTTTTTG;TTTTTTG) 0 common in clinvar
Make rs587784145(-;-)
Make rs587784145(-;TTTTTTG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269690
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784145
ebirs587784145
HLIrs587784145
Exacrs587784145
Varsomers587784145
Maprs587784145
PheGenIrs587784145
hapmaprs587784145
1000 genomesrs587784145
hgdprs587784145
ensemblrs587784145
gopubmedrs587784145
geneviewrs587784145
scholarrs587784145
googlers587784145
pharmgkbrs587784145
gwascentralrs587784145
openSNPrs587784145
23andMers587784145
23andMe allrs587784145
SNP Nexus

SNPshotrs587784145
SNPdbers587784145
MSV3drs587784145
GWAS Ctlgrs587784145
Max Magnitude0
ClinVar
Risk rs587784145(;)
Alt rs587784145(;)
Reference rs587784145(TTTTTTG;TTTTTTG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696691_176696697delTTTTTTG
CLNSRC
CLNACC RCV000146872.1,