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rs797045058

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045058(C;T)
Make rs797045058(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177295334
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045058
ebirs797045058
HLIrs797045058
Exacrs797045058
Varsomers797045058
Maprs797045058
PheGenIrs797045058
hapmaprs797045058
1000 genomesrs797045058
hgdprs797045058
ensemblrs797045058
gopubmedrs797045058
geneviewrs797045058
scholarrs797045058
googlers797045058
pharmgkbrs797045058
gwascentralrs797045058
openSNPrs797045058
23andMers797045058
23andMe allrs797045058
SNP Nexus

SNPshotrs797045058
SNPdbers797045058
MSV3drs797045058
GWAS Ctlgrs797045058
Max Magnitude0
ClinVar
Risk rs797045058(T;T)
Alt rs797045058(T;T)
Reference rs797045058(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176722335C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191112.1,