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rs398124374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124374(-;-)
Make rs398124374(-;A)
ReferenceGRCh38 38.1/141
Chromosome5
Position177210748
GeneNSD1
is asnp
is mentioned by
dbSNPrs398124374
dbSNP (classic)rs398124374
ClinGenrs398124374
ebirs398124374
HLIrs398124374
Exacrs398124374
Gnomadrs398124374
Varsomers398124374
LitVarrs398124374
Maprs398124374
PheGenIrs398124374
Biobankrs398124374
1000 genomesrs398124374
hgdprs398124374
ensemblrs398124374
geneviewrs398124374
scholarrs398124374
googlers398124374
pharmgkbrs398124374
gwascentralrs398124374
openSNPrs398124374
23andMers398124374
SNPshotrs398124374
SNPdbers398124374
MSV3drs398124374
GWAS Ctlgrs398124374
Max Magnitude0
ClinVar
Risk rs398124374(-;-)
Alt rs398124374(-;-)
Reference Rs398124374(A;A)
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.176637749delA
CLNSRC ClinVar
CLNACC RCV000082109.3, RCV000178991.1,