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rs398124378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124378(A;G)
Make rs398124378(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position177257029
GeneNSD1
is asnp
is mentioned by
dbSNPrs398124378
ebirs398124378
HLIrs398124378
Exacrs398124378
Varsomers398124378
Maprs398124378
PheGenIrs398124378
hapmaprs398124378
1000 genomesrs398124378
hgdprs398124378
ensemblrs398124378
gopubmedrs398124378
geneviewrs398124378
scholarrs398124378
googlers398124378
pharmgkbrs398124378
gwascentralrs398124378
openSNPrs398124378
23andMers398124378
23andMe allrs398124378
SNP Nexus

SNPshotrs398124378
SNPdbers398124378
MSV3drs398124378
GWAS Ctlgrs398124378
Max Magnitude0
ClinVar
Risk rs398124378(C,G;C,G)
Alt rs398124378(C,G;C,G)
Reference rs398124378(A;A)
Significance Probable-Pathogenic
Disease Sotos syndrome 1 not provided
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 not provided
Reversed 0
HGVS NC_000005.9:g.176684030A>C; NC_000005.9:g.176684030A>G
CLNSRC ClinVar University of Chicago Emory University
CLNACC RCV000146850.1, RCV000082125.4,