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rs121908071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908071(A;A)
Make rs121908071(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177293973
GeneNSD1
is asnp
is mentioned by
dbSNPrs121908071
ebirs121908071
HLIrs121908071
Exacrs121908071
Varsomers121908071
Maprs121908071
PheGenIrs121908071
hapmaprs121908071
1000 genomesrs121908071
hgdprs121908071
ensemblrs121908071
gopubmedrs121908071
geneviewrs121908071
scholarrs121908071
googlers121908071
pharmgkbrs121908071
gwascentralrs121908071
openSNPrs121908071
23andMers121908071
23andMe allrs121908071
SNP Nexus

SNPshotrs121908071
SNPdbers121908071
MSV3drs121908071
GWAS Ctlgrs121908071
Max Magnitude0
OMIM606681
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908071(A;A)
Alt rs121908071(A;A)
Reference rs121908071(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720974G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004362.2,