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rs587784176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784176(C;T)
Make rs587784176(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177283826
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784176
dbSNP (classic)rs587784176
ClinGenrs587784176
ebirs587784176
HLIrs587784176
Exacrs587784176
Gnomadrs587784176
Varsomers587784176
LitVarrs587784176
Maprs587784176
PheGenIrs587784176
Biobankrs587784176
1000 genomesrs587784176
hgdprs587784176
ensemblrs587784176
geneviewrs587784176
scholarrs587784176
googlers587784176
pharmgkbrs587784176
gwascentralrs587784176
openSNPrs587784176
23andMers587784176
SNPshotrs587784176
SNPdbers587784176
MSV3drs587784176
GWAS Ctlgrs587784176
Max Magnitude0
ClinVar
Risk rs587784176(A;A) rs587784176(T;T)
Alt rs587784176(A;A) rs587784176(T;T)
Reference Rs587784176(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176710827C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000146905.2,