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rs587784200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784200(A;A)
Make rs587784200(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292150
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784200
dbSNP (classic)rs587784200
ClinGenrs587784200
ebirs587784200
HLIrs587784200
Exacrs587784200
Gnomadrs587784200
Varsomers587784200
LitVarrs587784200
Maprs587784200
PheGenIrs587784200
Biobankrs587784200
1000 genomesrs587784200
hgdprs587784200
ensemblrs587784200
geneviewrs587784200
scholarrs587784200
googlers587784200
pharmgkbrs587784200
gwascentralrs587784200
openSNPrs587784200
23andMers587784200
SNPshotrs587784200
SNPdbers587784200
MSV3drs587784200
GWAS Ctlgrs587784200
Max Magnitude0
ClinVar
Risk rs587784200(A;A)
Alt rs587784200(A;A)
Reference Rs587784200(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719151G>A
CLNSRC
CLNACC RCV000146931.1,