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rs797045057

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045057(C;T)
Make rs797045057(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177282522
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045057
ebirs797045057
HLIrs797045057
Exacrs797045057
Varsomers797045057
Maprs797045057
PheGenIrs797045057
hapmaprs797045057
1000 genomesrs797045057
hgdprs797045057
ensemblrs797045057
gopubmedrs797045057
geneviewrs797045057
scholarrs797045057
googlers797045057
pharmgkbrs797045057
gwascentralrs797045057
openSNPrs797045057
23andMers797045057
23andMe allrs797045057
SNP Nexus

SNPshotrs797045057
SNPdbers797045057
MSV3drs797045057
GWAS Ctlgrs797045057
Max Magnitude0
ClinVar
Risk rs797045057(T;T)
Alt rs797045057(T;T)
Reference rs797045057(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176709523C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191111.1,