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rs587784148

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784148(C;T)
Make rs587784148(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269729
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784148
ebirs587784148
HLIrs587784148
Exacrs587784148
Varsomers587784148
Maprs587784148
PheGenIrs587784148
hapmaprs587784148
1000 genomesrs587784148
hgdprs587784148
ensemblrs587784148
gopubmedrs587784148
geneviewrs587784148
scholarrs587784148
googlers587784148
pharmgkbrs587784148
gwascentralrs587784148
openSNPrs587784148
23andMers587784148
23andMe allrs587784148
SNP Nexus

SNPshotrs587784148
SNPdbers587784148
MSV3drs587784148
GWAS Ctlgrs587784148
Max Magnitude0
ClinVar
Risk rs587784148(T;T)
Alt rs587784148(T;T)
Reference rs587784148(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696730C>T
CLNSRC
CLNACC RCV000146875.1,