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rs570278338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs570278338(C;G)
Make rs570278338(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position177246710
GeneNSD1
is asnp
is mentioned by
dbSNPrs570278338
ebirs570278338
HLIrs570278338
Exacrs570278338
Varsomers570278338
Maprs570278338
PheGenIrs570278338
hapmaprs570278338
1000 genomesrs570278338
hgdprs570278338
ensemblrs570278338
gopubmedrs570278338
geneviewrs570278338
scholarrs570278338
googlers570278338
pharmgkbrs570278338
gwascentralrs570278338
openSNPrs570278338
23andMers570278338
23andMe allrs570278338
SNP Nexus

SNPshotrs570278338
SNPdbers570278338
MSV3drs570278338
GWAS Ctlgrs570278338
Max Magnitude0
ClinVar
Risk rs570278338(G,T;G,T)
Alt rs570278338(G,T;G,T)
Reference rs570278338(C;C)
Significance Pathogenic
Disease Sotos syndrome 1 Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176673711C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146833.1, RCV000226841.1,