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rs121908070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908070(C;T)
Make rs121908070(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position177238273
GeneNSD1
is asnp
is mentioned by
dbSNPrs121908070
ebirs121908070
HLIrs121908070
Exacrs121908070
Varsomers121908070
Maprs121908070
PheGenIrs121908070
hapmaprs121908070
1000 genomesrs121908070
hgdprs121908070
ensemblrs121908070
gopubmedrs121908070
geneviewrs121908070
scholarrs121908070
googlers121908070
pharmgkbrs121908070
gwascentralrs121908070
openSNPrs121908070
23andMers121908070
23andMe allrs121908070
SNP Nexus

SNPshotrs121908070
SNPdbers121908070
MSV3drs121908070
GWAS Ctlgrs121908070
Max Magnitude0
OMIM606681
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908070(T;T)
Alt rs121908070(T;T)
Reference rs121908070(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176665274C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004359.3,