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rs587784205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784205(A;A)
Make rs587784205(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177293868
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784205
dbSNP (classic)rs587784205
ClinGenrs587784205
ebirs587784205
HLIrs587784205
Exacrs587784205
Gnomadrs587784205
Varsomers587784205
LitVarrs587784205
Maprs587784205
PheGenIrs587784205
Biobankrs587784205
1000 genomesrs587784205
hgdprs587784205
ensemblrs587784205
geneviewrs587784205
scholarrs587784205
googlers587784205
pharmgkbrs587784205
gwascentralrs587784205
openSNPrs587784205
23andMers587784205
SNPshotrs587784205
SNPdbers587784205
MSV3drs587784205
GWAS Ctlgrs587784205
Max Magnitude0
ClinVar
Risk rs587784205(A;A)
Alt rs587784205(A;A)
Reference Rs587784205(G;G)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720869G>A
CLNSRC
CLNACC RCV000146936.1,