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rs794729232

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794729232(-;-)
Make rs794729232(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177210141
GeneNSD1
is asnp
is mentioned by
dbSNPrs794729232
ebirs794729232
HLIrs794729232
Exacrs794729232
Varsomers794729232
Maprs794729232
PheGenIrs794729232
hapmaprs794729232
1000 genomesrs794729232
hgdprs794729232
ensemblrs794729232
gopubmedrs794729232
geneviewrs794729232
scholarrs794729232
googlers794729232
pharmgkbrs794729232
gwascentralrs794729232
openSNPrs794729232
23andMers794729232
23andMe allrs794729232
SNP Nexus

SNPshotrs794729232
SNPdbers794729232
MSV3drs794729232
GWAS Ctlgrs794729232
Max Magnitude0
ClinVar
Risk rs794729232(;)
Alt rs794729232(;)
Reference rs794729232(A;A)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637142delA
CLNSRC
CLNACC RCV000184053.1,