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rs398124381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124381(A;A)
Make rs398124381(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177292159
GeneNSD1
is asnp
is mentioned by
dbSNPrs398124381
dbSNP (classic)rs398124381
ClinGenrs398124381
ebirs398124381
HLIrs398124381
Exacrs398124381
Gnomadrs398124381
Varsomers398124381
LitVarrs398124381
Maprs398124381
PheGenIrs398124381
Biobankrs398124381
1000 genomesrs398124381
hgdprs398124381
ensemblrs398124381
geneviewrs398124381
scholarrs398124381
googlers398124381
pharmgkbrs398124381
gwascentralrs398124381
openSNPrs398124381
23andMers398124381
SNPshotrs398124381
SNPdbers398124381
MSV3drs398124381
GWAS Ctlgrs398124381
Max Magnitude0
ClinVar
Risk rs398124381(A;A)
Alt rs398124381(A;A)
Reference Rs398124381(G;G)
Significance Pathogenic
Disease not provided Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN not provided Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719160G>A
CLNSRC ClinVar
CLNACC RCV000082132.3, RCV000176326.1,