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rs587784214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784214(A;A)
Make rs587784214(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177294024
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784214
dbSNP (classic)rs587784214
ClinGenrs587784214
ebirs587784214
HLIrs587784214
Exacrs587784214
Gnomadrs587784214
Varsomers587784214
LitVarrs587784214
Maprs587784214
PheGenIrs587784214
Biobankrs587784214
1000 genomesrs587784214
hgdprs587784214
ensemblrs587784214
geneviewrs587784214
scholarrs587784214
googlers587784214
pharmgkbrs587784214
gwascentralrs587784214
openSNPrs587784214
23andMers587784214
SNPshotrs587784214
SNPdbers587784214
MSV3drs587784214
GWAS Ctlgrs587784214
Max Magnitude0
ClinVar
Risk rs587784214(A;A)
Alt rs587784214(A;A)
Reference Rs587784214(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176721025G>A
CLNSRC
CLNACC RCV000146945.1,