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rs587784096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784096(C;T)
Make rs587784096(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177211490
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784096
dbSNP (classic)rs587784096
ClinGenrs587784096
ebirs587784096
HLIrs587784096
Exacrs587784096
Gnomadrs587784096
Varsomers587784096
LitVarrs587784096
Maprs587784096
PheGenIrs587784096
Biobankrs587784096
1000 genomesrs587784096
hgdprs587784096
ensemblrs587784096
geneviewrs587784096
scholarrs587784096
googlers587784096
pharmgkbrs587784096
gwascentralrs587784096
openSNPrs587784096
23andMers587784096
SNPshotrs587784096
SNPdbers587784096
MSV3drs587784096
GWAS Ctlgrs587784096
Max Magnitude0
ClinVar
Risk rs587784096(T;T)
Alt rs587784096(T;T)
Reference Rs587784096(C;C)
Significance Pathogenic
Disease Sotos syndrome 1 not provided
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 not provided
Reversed 0
HGVS NC_000005.9:g.176638491C>T
CLNSRC
CLNACC RCV000146802.1, RCV000443994.1,