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rs587784199

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784199(C;T)
Make rs587784199(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292149
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784199
ebirs587784199
HLIrs587784199
Exacrs587784199
Varsomers587784199
Maprs587784199
PheGenIrs587784199
hapmaprs587784199
1000 genomesrs587784199
hgdprs587784199
ensemblrs587784199
gopubmedrs587784199
geneviewrs587784199
scholarrs587784199
googlers587784199
pharmgkbrs587784199
gwascentralrs587784199
openSNPrs587784199
23andMers587784199
23andMe allrs587784199
SNP Nexus

SNPshotrs587784199
SNPdbers587784199
MSV3drs587784199
GWAS Ctlgrs587784199
Max Magnitude0
ClinVar
Risk rs587784199(A,T;A,T)
Alt rs587784199(A,T;A,T)
Reference rs587784199(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719150C>T
CLNSRC
CLNACC RCV000146930.1,