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rs794727176

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727176(C;T)
Make rs794727176(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177269630
GeneNSD1
is asnp
is mentioned by
dbSNPrs794727176
ebirs794727176
HLIrs794727176
Exacrs794727176
Varsomers794727176
Maprs794727176
PheGenIrs794727176
hapmaprs794727176
1000 genomesrs794727176
hgdprs794727176
ensemblrs794727176
gopubmedrs794727176
geneviewrs794727176
scholarrs794727176
googlers794727176
pharmgkbrs794727176
gwascentralrs794727176
openSNPrs794727176
23andMers794727176
23andMe allrs794727176
SNP Nexus

SNPshotrs794727176
SNPdbers794727176
MSV3drs794727176
GWAS Ctlgrs794727176
Max Magnitude0
ClinVar
Risk rs794727176(T;T)
Alt rs794727176(T;T)
Reference rs794727176(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696631C>T
CLNSRC
CLNACC RCV000175098.1,