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rs201327209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201327209(C;T)
Make rs201327209(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position177210738
GeneNSD1
is asnp
is mentioned by
dbSNPrs201327209
ebirs201327209
HLIrs201327209
Exacrs201327209
Varsomers201327209
Maprs201327209
PheGenIrs201327209
hapmaprs201327209
1000 genomesrs201327209
hgdprs201327209
ensemblrs201327209
gopubmedrs201327209
geneviewrs201327209
scholarrs201327209
googlers201327209
pharmgkbrs201327209
gwascentralrs201327209
openSNPrs201327209
23andMers201327209
23andMe allrs201327209
SNP Nexus

SNPshotrs201327209
SNPdbers201327209
MSV3drs201327209
GWAS Ctlgrs201327209
Max Magnitude0
ClinVar
Risk rs201327209(A,T;A,T)
Alt rs201327209(A,T;A,T)
Reference rs201327209(C;C)
Significance Pathogenic
Disease Sotos syndrome 1 Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176637739C>A; NC_000005.9:g.176637739C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146785.1, RCV000226162.1,