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rs121908068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908068(C;G)
Make rs121908068(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177292124
GeneNSD1
is asnp
is mentioned by
dbSNPrs121908068
ebirs121908068
HLIrs121908068
Exacrs121908068
Varsomers121908068
Maprs121908068
PheGenIrs121908068
hapmaprs121908068
1000 genomesrs121908068
hgdprs121908068
ensemblrs121908068
gopubmedrs121908068
geneviewrs121908068
scholarrs121908068
googlers121908068
pharmgkbrs121908068
gwascentralrs121908068
openSNPrs121908068
23andMers121908068
23andMe allrs121908068
SNP Nexus

SNPshotrs121908068
SNPdbers121908068
MSV3drs121908068
GWAS Ctlgrs121908068
Max Magnitude0
OMIM606681
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908068(G,T;G,T)
Alt rs121908068(G,T;G,T)
Reference rs121908068(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719125C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004355.4,