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rs121908069

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908069(C;C)
Make rs121908069(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177293916
GeneNSD1
is asnp
is mentioned by
dbSNPrs121908069
ebirs121908069
HLIrs121908069
Exacrs121908069
Varsomers121908069
Maprs121908069
PheGenIrs121908069
hapmaprs121908069
1000 genomesrs121908069
hgdprs121908069
ensemblrs121908069
gopubmedrs121908069
geneviewrs121908069
scholarrs121908069
googlers121908069
pharmgkbrs121908069
gwascentralrs121908069
openSNPrs121908069
23andMers121908069
23andMe allrs121908069
SNP Nexus

SNPshotrs121908069
SNPdbers121908069
MSV3drs121908069
GWAS Ctlgrs121908069
Max Magnitude0
OMIM606681
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908069(C;C)
Alt rs121908069(C;C)
Reference rs121908069(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720917G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004356.4,