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rs121908067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908067(C;G)
Make rs121908067(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177209709
GeneNSD1
is asnp
is mentioned by
dbSNPrs121908067
dbSNP (classic)rs121908067
ClinGenrs121908067
ebirs121908067
HLIrs121908067
Exacrs121908067
Gnomadrs121908067
Varsomers121908067
LitVarrs121908067
Maprs121908067
PheGenIrs121908067
Biobankrs121908067
1000 genomesrs121908067
hgdprs121908067
ensemblrs121908067
geneviewrs121908067
scholarrs121908067
googlers121908067
pharmgkbrs121908067
gwascentralrs121908067
openSNPrs121908067
23andMers121908067
SNPshotrs121908067
SNPdbers121908067
MSV3drs121908067
GWAS Ctlgrs121908067
Max Magnitude0
OMIM606681
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908067(G;G)
Alt rs121908067(G;G)
Reference Rs121908067(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176636710C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004351.3,