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rs864309639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309639(-;C)
Make rs864309639(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177292145
GeneNSD1
is asnp
is mentioned by
dbSNPrs864309639
ClinGenrs864309639
ebirs864309639
HLIrs864309639
Exacrs864309639
Varsomers864309639
Maprs864309639
PheGenIrs864309639
hapmaprs864309639
1000 genomesrs864309639
hgdprs864309639
ensemblrs864309639
gopubmedrs864309639
geneviewrs864309639
scholarrs864309639
googlers864309639
pharmgkbrs864309639
gwascentralrs864309639
openSNPrs864309639
23andMers864309639
23andMe allrs864309639
SNP Nexus

SNPshotrs864309639
SNPdbers864309639
MSV3drs864309639
GWAS Ctlgrs864309639
Max Magnitude0
ClinVar
Risk rs864309639(C;C)
Alt rs864309639(C;C)
Reference Rs864309639(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719146dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004357.3,